This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Revel Score:
ENST00000360093
0.336
ENST00000283254 (MANE Select)
0.336
ENST00000409101
0.336
ENST00000540861
0.336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165090216T>G , CM000664.2:g.165090216T>G | GRCh38 |
| NC_000002.11:g.165946726T>G , CM000664.1:g.165946726T>G | GRCh37 |
| NC_000002.10:g.165654972T>G | NCBI36 |
| NG_042289.1:g.118873A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706067.1:c.5886A>C | ENSP00000516211.1:p.Glu1962Asp | |
| ENST00000283254.12:c.5937A>C MANE Select | ENSP00000283254.7:p.Glu1979Asp | |
| ENST00000638473.1:c.*3778A>C | ENSP00000491552.1:n.*3778A>C | |
| ENST00000639244.1:c.5874A>C | ENSP00000492251.1:p.Glu1958Asp | |
| ENST00000640652.1:c.*2671A>C | ENSP00000492807.1:n.*2671A>C | |
| ENST00000658209.1:c.4146A>C | ENSP00000499598.1:n.4146A>C | |
| ENST00000283254.11:c.5937A>C | ENSP00000283254.7:p.Glu1979Asp | |
| ENST00000360093.7:c.5937A>C | ENSP00000353206.3:p.Glu1979Asp | |
| ENST00000409101.7:c.5790A>C | ENSP00000386726.3:p.Glu1930Asp | |
| NM_001081676.1:c.5790A>C | NP_001075145.1:p.Glu1930Asp | |
| NM_001081677.1:c.5790A>C | NP_001075146.1:p.Glu1930Asp | |
| NM_006922.3:c.5937A>C | NP_008853.3:p.Glu1979Asp | |
| XM_006712679.1:c.5937A>C | XP_006712742.1:p.Glu1979Asp | |
| XM_011511610.1:c.5937A>C | XP_011509912.1:p.Glu1979Asp | |
| XM_011511611.1:c.5937A>C | XP_011509913.1:p.Glu1979Asp | |
| XM_011511612.1:c.5886A>C | XP_011509914.1:p.Glu1962Asp | |
| XM_011511613.1:c.4047A>C | XP_011509915.1:p.Glu1349Asp | |
| XM_011511610.3:c.5937A>C | XP_011509912.1:p.Glu1979Asp | |
| XM_011511613.3:c.4047A>C | XP_011509915.1:p.Glu1349Asp | |
| XM_017004660.2:c.5937A>C | XP_016860149.1:p.Glu1979Asp | |
| XM_017004661.2:c.5886A>C | XP_016860150.1:p.Glu1962Asp | |
| XM_017004662.2:c.5799A>C | XP_016860151.1:p.Glu1933Asp | |
| XM_017004663.2:c.4047A>C | XP_016860152.1:p.Glu1349Asp | |
| NM_006922.4:c.5937A>C MANE Select | NP_008853.3:p.Glu1979Asp | |
| NM_001081676.2:c.5790A>C | NP_001075145.1:p.Glu1930Asp | |
| NM_001081677.2:c.5790A>C | NP_001075146.1:p.Glu1930Asp |