Linked Data
ClinVar Variation Id:
360342
dbSNP Id:
rs200617745
ExAC:
7:4830318 C / T
gnomAD v2:
7-4830318-C-T
gnomAD v3:
7-4790687-C-T
gnomAD v4:
7-4790687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4790687C>T , CM000669.2:g.4790687C>T | GRCh38 |
| NC_000007.13:g.4830318C>T , CM000669.1:g.4830318C>T | GRCh37 |
| NC_000007.12:g.4796844C>T | NCBI36 |
| NG_028111.1:g.20057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.2240C>T | ||
| ENST00000496303.6:n.1781C>T | ||
| ENST00000647984.1:c.*1298C>T | ENSP00000497794.1:n.*1298C>T | |
| ENST00000648237.1:c.226+96C>T | ||
| ENST00000648360.1:c.633C>T | ||
| ENST00000648925.1:c.*356C>T | ENSP00000496830.1:n.*356C>T | |
| ENST00000649063.2:c.1953C>T MANE Select | ENSP00000497815.1:p.Gly651= | |
| ENST00000649315.1:c.1450C>T | ||
| ENST00000649419.1:n.1832C>T | ||
| ENST00000649736.1:n.816C>T | ||
| ENST00000650310.1:c.*524C>T | ENSP00000497395.1:n.*524C>T | |
| ENST00000650581.1:c.608-123C>T | ||
| ENST00000348624.4:c.1953C>T | ENSP00000297562.4:p.Gly651= | |
| ENST00000469614.1:n.1501C>T | ||
| ENST00000477680.5:n.2240C>T | ||
| ENST00000490487.1:n.226+96C>T | ||
| ENST00000496303.5:n.2262C>T | ||
| NM_014855.2:c.1953C>T | NP_055670.1:p.Gly651= | |
| NM_001364858.1:c.1485C>T | NP_001351787.1:p.Gly495= | |
| NM_014855.3:c.1953C>T MANE Select | NP_055670.1:p.Gly651= | |
| NR_157345.1:n.2084C>T |