This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32363326T>G , CM000675.2:g.32363326T>G | GRCh38 |
| NC_000013.10:g.32937463T>G , CM000675.1:g.32937463T>G | GRCh37 |
| NC_000013.9:g.31835463T>G | NCBI36 |
| NG_012772.3:g.52847T>G , LRG_293:g.52847T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8124T>G | ENSP00000434898.2:p.Thr2708= | |
| ENST00000528762.2:c.8124T>G | ENSP00000433168.2:p.Thr2708= | |
| ENST00000530893.7:c.7755T>G | ENSP00000499438.2:p.Thr2585= | |
| ENST00000665585.2:c.8124T>G | ENSP00000499570.2:p.Thr2708= | |
| ENST00000666593.2:c.8124T>G | ENSP00000499256.2:p.Thr2708= | |
| ENST00000700202.2:c.8124T>G | ENSP00000514856.2:p.Thr2708= | |
| ENST00000700202.1:c.591T>G | ENSP00000514856.1:p.Thr197= | |
| ENST00000380152.8:c.8124T>G MANE Select | ENSP00000369497.3:p.Thr2708= | |
| ENST00000544455.6:c.8124T>G | ENSP00000439902.1:p.Thr2708= | |
| ENST00000614259.2:c.8132T>G | ENSP00000506251.1:n.8132T>G | |
| ENST00000665585.1:c.689T>G | ||
| ENST00000680887.1:c.8124T>G | ENSP00000505508.1:p.Thr2708= | |
| ENST00000380152.7:c.8124T>G | ENSP00000369497.3:p.Thr2708= | |
| ENST00000544455.5:c.8124T>G | ENSP00000439902.1:p.Thr2708= | |
| NM_000059.3:c.8124T>G , LRG_293t1:c.8124T>G | NP_000050.2:p.Thr2708= | |
| XM_011535203.1:c.8124T>G | XP_011533505.1:p.Thr2708= | |
| XM_011535204.1:c.8028T>G | XP_011533506.1:p.Thr2676= | |
| XM_011535205.1:c.8124T>G | XP_011533507.1:p.Thr2708= | |
| NM_000059.4:c.8124T>G MANE Select | NP_000050.3:p.Thr2708= |