Linked Data
ClinVar Variation Id:
545022
dbSNP Id:
rs777647845
ExAC:
7:44151132 C / A
gnomAD v2:
7-44151132-C-A
gnomAD v3:
7-44111533-C-A
gnomAD v4:
7-44111533-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44111533C>A , CM000669.2:g.44111533C>A | GRCh38 |
| NC_000007.13:g.44151132C>A , CM000669.1:g.44151132C>A | GRCh37 |
| NC_000007.12:g.44117657C>A | NCBI36 |
| NG_056775.1:g.12214C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223357.8:c.1743C>A MANE Select | ENSP00000223357.3:p.Cys581Ter | |
| ENST00000223357.7:c.1743C>A | ENSP00000223357.3:p.Cys581Ter | |
| ENST00000413907.1:c.62C>A | ||
| ENST00000431035.1:c.27C>A | ENSP00000416568.1:p.Cys9Ter | |
| ENST00000434445.1:c.529C>A | ENSP00000397241.1:n.529C>A | |
| ENST00000450684.2:c.468C>A | ENSP00000398878.2:p.Cys156Ter | |
| NM_001129.4:c.1743C>A | NP_001120.3:p.Cys581Ter | |
| XM_011515162.1:c.1665C>A | XP_011513464.1:p.Cys555Ter | |
| NM_001129.5:c.1743C>A MANE Select | NP_001120.3:p.Cys581Ter |