Linked Data
ClinVar Variation Id:
446847
dbSNP Id:
rs764332870
ExAC:
7:4828476 C / T
gnomAD v2:
7-4828476-C-T
gnomAD v3:
7-4788845-C-T
gnomAD v4:
7-4788845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4788845C>T , CM000669.2:g.4788845C>T | GRCh38 |
| NC_000007.13:g.4828476C>T , CM000669.1:g.4828476C>T | GRCh37 |
| NC_000007.12:g.4795002C>T | NCBI36 |
| NG_028111.1:g.18215C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1359C>T | ||
| ENST00000496303.6:n.1429C>T | ||
| ENST00000647984.1:c.*946C>T | ENSP00000497794.1:n.*946C>T | |
| ENST00000648360.1:c.211C>T | ||
| ENST00000648925.1:c.1601C>T | ENSP00000496830.1:p.Ala534Val | |
| ENST00000649063.2:c.1601C>T MANE Select | ENSP00000497815.1:p.Ala534Val | |
| ENST00000649315.1:c.1098C>T | ||
| ENST00000649419.1:n.1480C>T | ||
| ENST00000649736.1:n.464C>T | ||
| ENST00000650310.1:c.*172C>T | ENSP00000497395.1:n.*172C>T | |
| ENST00000650581.1:c.403C>T | ||
| ENST00000348624.4:c.1601C>T | ENSP00000297562.4:p.Ala534Val | |
| ENST00000469614.1:n.620C>T | ||
| ENST00000477454.1:n.382C>T | ||
| ENST00000477680.5:n.1359C>T | ||
| ENST00000496303.5:n.1665C>T | ||
| NM_014855.2:c.1601C>T | NP_055670.1:p.Ala534Val | |
| XR_242109.1:n.1664C>T | ||
| NM_001364858.1:c.1133C>T | NP_001351787.1:p.Ala378Val | |
| NM_014855.3:c.1601C>T MANE Select | NP_055670.1:p.Ala534Val | |
| NR_157345.1:n.1732C>T |