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:
ENST00000360256 (MANE Select)
0.241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154929640T>G , CM000685.2:g.154929640T>G | GRCh38 |
| NC_000023.10:g.154157915T>G , CM000685.1:g.154157915T>G | GRCh37 |
| NC_000023.9:g.153811109T>G | NCBI36 |
| NG_011403.1:g.98084A>C | |
| NG_011403.2:g.98084A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.4150A>C MANE Select | ENSP00000353393.4:p.Ile1384Leu | |
| ENST00000360256.8:c.4150A>C | ENSP00000353393.4:p.Ile1384Leu | |
| NM_000132.3:c.4150A>C | NP_000123.1:p.Ile1384Leu | |
| XM_011531126.1:c.4045A>C | XP_011529428.1:p.Ile1349Leu | |
| NM_000132.4:c.4150A>C MANE Select | NP_000123.1:p.Ile1384Leu |