Linked Data
ClinVar Variation Id:
1917019
ClinVar RCV Id:
RCV002625487
dbSNP Id:
rs750496712
ExAC:
12:132425886 C / T
gnomAD v2:
12-132425886-C-T
gnomAD v3:
12-131941341-C-T
gnomAD v4:
12-131941341-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941341C>T , CM000674.2:g.131941341C>T | GRCh38 |
| NC_000012.11:g.132425886C>T , CM000674.1:g.132425886C>T | GRCh37 |
| NC_000012.10:g.130991839C>T | NCBI36 |
| NG_013039.1:g.17142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.594C>T MANE Select | ENSP00000365837.3:p.Ala198= | |
| ENST00000322060.9:c.510C>T | ENSP00000324726.5:p.Ala170= | |
| ENST00000376649.7:c.594C>T | ENSP00000365837.3:p.Ala198= | |
| ENST00000443358.6:c.510C>T | ENSP00000392451.2:p.Ala170= | |
| ENST00000535067.5:c.358-2198C>T | ENSP00000443969.1:n.358-2198C>T | |
| ENST00000537484.1:c.519C>T | ENSP00000440179.1:p.Ala173= | |
| ENST00000542167.2:c.435C>T | ENSP00000438948.1:p.Ala145= | |
| ENST00000543754.1:n.415C>T | ||
| NM_001002019.2:c.510C>T | NP_001002019.1:p.Ala170= | |
| NM_001002020.2:c.510C>T | NP_001002020.1:p.Ala170= | |
| NM_025215.5:c.594C>T | NP_079491.2:p.Ala198= | |
| XM_011538768.1:c.195C>T | XP_011537070.1:p.Ala65= | |
| XM_011538768.3:c.195C>T | XP_011537070.1:p.Ala65= | |
| XR_001748872.1:n.1049C>T | ||
| NM_001002019.3:c.510C>T | NP_001002019.1:p.Ala170= | |
| NM_001002020.3:c.510C>T | NP_001002020.1:p.Ala170= | |
| NM_025215.6:c.594C>T MANE Select | NP_079491.2:p.Ala198= |