Linked Data
ClinVar Variation Id:
478581
dbSNP Id:
rs372922535
ExAC:
7:4829528 C / T
gnomAD v2:
7-4829528-C-T
gnomAD v3:
7-4789897-C-T
gnomAD v4:
7-4789897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4789897C>T , CM000669.2:g.4789897C>T | GRCh38 |
| NC_000007.13:g.4829528C>T , CM000669.1:g.4829528C>T | GRCh37 |
| NC_000007.12:g.4796054C>T | NCBI36 |
| NG_028111.1:g.19267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1531C>T | ||
| ENST00000496303.6:n.1601C>T | ||
| ENST00000647984.1:c.*1118C>T | ENSP00000497794.1:n.*1118C>T | |
| ENST00000648237.1:c.61C>T | ||
| ENST00000648360.1:c.383C>T | ||
| ENST00000648925.1:c.1773C>T | ENSP00000496830.1:p.Tyr591= | |
| ENST00000649063.2:c.1773C>T MANE Select | ENSP00000497815.1:p.Tyr591= | |
| ENST00000649315.1:c.1270C>T | ||
| ENST00000649419.1:n.1652C>T | ||
| ENST00000649736.1:n.636C>T | ||
| ENST00000650310.1:c.*344C>T | ENSP00000497395.1:n.*344C>T | |
| ENST00000650581.1:c.575C>T | ||
| ENST00000348624.4:c.1773C>T | ENSP00000297562.4:p.Tyr591= | |
| ENST00000469614.1:n.792C>T | ||
| ENST00000477680.5:n.1531C>T | ||
| ENST00000490487.1:n.61C>T | ||
| ENST00000496303.5:n.1837C>T | ||
| NM_014855.2:c.1773C>T | NP_055670.1:p.Tyr591= | |
| NM_001364858.1:c.1305C>T | NP_001351787.1:p.Tyr435= | |
| NM_014855.3:c.1773C>T MANE Select | NP_055670.1:p.Tyr591= | |
| NR_157345.1:n.1904C>T |