Linked Data
ClinVar Variation Id:
432619
dbSNP Id:
rs771044828
ExAC:
14:105180993 C / T
gnomAD v2:
14-105180993-C-T
gnomAD v4:
14-104714656-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714656C>T , CM000676.2:g.104714656C>T | GRCh38 |
| NC_000014.8:g.105180993C>T , CM000676.1:g.105180993C>T | GRCh37 |
| NC_000014.7:g.104252038C>T | NCBI36 |
| NG_027684.1:g.30051C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3494C>T MANE Select | ENSP00000376410.4:p.Ala1165Val | |
| ENST00000617571.5:c.3490C>T | ENSP00000483829.2:n.3490C>T | |
| ENST00000674520.1:c.3489C>T | ENSP00000502593.1:n.3489C>T | |
| ENST00000674631.1:c.1532C>T | ENSP00000502830.1:p.Ala511Val | |
| ENST00000674662.1:c.3498C>T | ENSP00000501895.1:n.3498C>T | |
| ENST00000674757.1:c.3499C>T | ENSP00000502202.1:n.3499C>T | |
| ENST00000674822.1:c.3378C>T | ENSP00000501552.1:n.3378C>T | |
| ENST00000674846.1:c.3489C>T | ENSP00000502431.1:n.3489C>T | |
| ENST00000674857.1:c.3483C>T | ENSP00000501687.1:n.3483C>T | |
| ENST00000674960.1:c.3352C>T | ENSP00000501841.1:n.3352C>T | |
| ENST00000674991.1:c.2744C>T | ENSP00000502004.1:p.Ala915Val | |
| ENST00000675207.1:c.3590C>T | ENSP00000502644.1:p.Ala1197Val | |
| ENST00000675329.1:c.3470C>T | ENSP00000502287.1:p.Ala1157Val | |
| ENST00000675481.1:c.3494C>T | ENSP00000502723.1:p.Ala1165Val | |
| ENST00000675583.1:c.3423C>T | ENSP00000501740.1:n.3423C>T | |
| ENST00000675603.1:n.734C>T | ||
| ENST00000675638.1:c.3413C>T | ENSP00000501647.1:p.Ala1138Val | |
| ENST00000675724.1:c.3432C>T | ENSP00000502576.1:n.3432C>T | |
| ENST00000675771.1:c.2757C>T | ENSP00000502104.1:n.2757C>T | |
| ENST00000675797.1:c.2899C>T | ENSP00000502023.1:n.2899C>T | |
| ENST00000675809.1:c.3549C>T | ENSP00000502587.1:n.3549C>T | |
| ENST00000675930.1:c.3382C>T | ENSP00000502456.1:p.Gln1128Ter | |
| ENST00000675980.1:c.3512C>T | ENSP00000502520.1:p.Ala1171Val | |
| ENST00000676016.1:c.3393C>T | ENSP00000502412.1:n.3393C>T | |
| ENST00000676366.1:c.3301C>T | ENSP00000501605.1:p.Gln1101Ter | |
| ENST00000252527.8:c.1898C>T | ENSP00000252527.8:p.Ala633Val | |
| ENST00000330634.11:c.3494C>T | ENSP00000376406.3:p.Ala1165Val | |
| ENST00000392634.8:c.3494C>T | ENSP00000376410.4:p.Ala1165Val | |
| ENST00000617571.4:c.-640C>T | ENSP00000483829.1:n.-640C>T | |
| NM_001031714.3:c.3494C>T | NP_001026884.3:p.Ala1165Val | |
| NM_022489.3:c.3494C>T | NP_071934.3:p.Ala1165Val | |
| XM_005268004.3:c.3590C>T | XP_005268061.1:p.Ala1197Val | |
| XM_005268005.3:c.3590C>T | XP_005268062.1:p.Ala1197Val | |
| XR_943507.1:n.3719C>T | ||
| XM_005268004.4:c.3590C>T | XP_005268061.1:p.Ala1197Val | |
| XM_005268005.4:c.3590C>T | XP_005268062.1:p.Ala1197Val | |
| XM_017021595.1:c.3590C>T | XP_016877084.1:p.Ala1197Val | |
| NM_001031714.4:c.3494C>T | NP_001026884.3:p.Ala1165Val | |
| NM_022489.4:c.3494C>T MANE Select | NP_071934.3:p.Ala1165Val |