Linked Data
ClinVar Variation Id:
1292114
ClinVar RCV Id:
RCV001717004
dbSNP Id:
rs603826
gnomAD v2:
11-118970878-A-C
gnomAD v3:
11-119100168-A-C
gnomAD v4:
11-119100168-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100168A>C , CM000673.2:g.119100168A>C | GRCh38 |
| NC_000011.9:g.118970878A>C , CM000673.1:g.118970878A>C | GRCh37 |
| NC_000011.8:g.118476088A>C | NCBI36 |
| NG_008918.1:g.6908T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445653.6:n.819+94T>G | ||
| ENST00000530052.2:n.1385+94T>G | ||
| ENST00000682191.1:n.845+94T>G | ||
| ENST00000682192.1:n.845+94T>G | ||
| ENST00000682232.1:c.*348+94T>G | ENSP00000507302.1:n.*348+94T>G | |
| ENST00000682326.1:c.643+94T>G | ENSP00000508129.1:n.643+94T>G | |
| ENST00000682404.1:n.1385+94T>G | ||
| ENST00000682517.1:n.1385+94T>G | ||
| ENST00000682652.1:n.1614+94T>G | ||
| ENST00000682665.1:n.1040+94T>G | ||
| ENST00000682691.1:n.1040+94T>G | ||
| ENST00000682791.1:c.556+94T>G | ENSP00000507312.1:n.556+94T>G | |
| ENST00000682811.1:c.643+94T>G | ENSP00000508196.1:n.643+94T>G | |
| ENST00000682883.1:n.946+94T>G | ||
| ENST00000682946.1:c.643+94T>G | ENSP00000506856.1:n.643+94T>G | |
| ENST00000683143.1:c.*348+94T>G | ENSP00000507168.1:n.*348+94T>G | |
| ENST00000683373.1:n.845+94T>G | ||
| ENST00000683558.1:n.845+94T>G | ||
| ENST00000683567.1:n.870+94T>G | ||
| ENST00000683955.1:n.1040+94T>G | ||
| ENST00000684142.1:c.*318+94T>G | ENSP00000508008.1:n.*318+94T>G | |
| ENST00000684252.1:n.1040+94T>G | ||
| ENST00000684255.1:c.*348+94T>G | ENSP00000507398.1:n.*348+94T>G | |
| ENST00000684315.1:n.1376+94T>G | ||
| ENST00000684345.1:c.*318+94T>G | ENSP00000507163.1:n.*318+94T>G | |
| ENST00000684499.1:c.*748+94T>G | ENSP00000506800.1:n.*748+94T>G | |
| ENST00000684682.1:c.*71+94T>G | ENSP00000507326.1:n.*71+94T>G | |
| ENST00000354202.9:c.643+94T>G MANE Select | ENSP00000346142.4:n.643+94T>G | |
| ENST00000636404.1:c.147+94T>G | ||
| ENST00000638850.1:c.147+94T>G | ||
| ENST00000639704.1:c.550+94T>G | ENSP00000491336.1:n.550+94T>G | |
| ENST00000640102.1:c.*296+94T>G | ENSP00000492027.1:n.*296+94T>G | |
| ENST00000640747.1:c.*318+94T>G | ENSP00000492730.1:n.*318+94T>G | |
| ENST00000354202.8:c.643+94T>G | ENSP00000346142.4:n.643+94T>G | |
| ENST00000392834.7:c.*348+94T>G | ENSP00000376579.3:n.*348+94T>G | |
| ENST00000409993.6:c.643+94T>G | ENSP00000386597.2:n.643+94T>G | |
| ENST00000414373.5:c.*389+94T>G | ENSP00000402019.1:n.*389+94T>G | |
| ENST00000442480.1:c.493+94T>G | ENSP00000406591.1:n.493+94T>G | |
| ENST00000461999.1:n.148+94T>G | ||
| ENST00000481084.5:n.1272+94T>G | ||
| ENST00000525456.5:n.646+94T>G | ||
| ENST00000530052.1:n.541+94T>G | ||
| ENST00000533687.1:n.655+94T>G | ||
| NM_001382.3:c.643+94T>G | NP_001373.2:n.643+94T>G | |
| XM_005271422.2:c.643+94T>G | XP_005271479.1:n.643+94T>G | |
| XM_011542648.1:c.322+94T>G | XP_011540950.1:n.322+94T>G | |
| XR_947801.1:n.1079+94T>G | ||
| XM_005271422.3:c.643+94T>G | XP_005271479.1:n.643+94T>G | |
| XM_011542648.2:c.322+94T>G | XP_011540950.1:n.322+94T>G | |
| XM_017017293.2:c.322+94T>G | XP_016872782.1:n.322+94T>G | |
| XM_017017294.2:c.643+94T>G | XP_016872783.1:n.643+94T>G | |
| XM_017017295.1:c.127+94T>G | XP_016872784.1:n.127+94T>G | |
| XR_001747785.2:n.866+94T>G | ||
| XR_947801.2:n.866+94T>G | ||
| NM_001382.4:c.643+94T>G MANE Select | NP_001373.2:n.643+94T>G |