Linked Data
ClinVar Variation Id:
210221
dbSNP Id:
rs372517211
ExAC:
7:4828475 G / T
gnomAD v2:
7-4828475-G-T
gnomAD v3:
7-4788844-G-T
gnomAD v4:
7-4788844-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4788844G>T , CM000669.2:g.4788844G>T | GRCh38 |
| NC_000007.13:g.4828475G>T , CM000669.1:g.4828475G>T | GRCh37 |
| NC_000007.12:g.4795001G>T | NCBI36 |
| NG_028111.1:g.18214G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1358G>T | ||
| ENST00000496303.6:n.1428G>T | ||
| ENST00000647984.1:c.*945G>T | ENSP00000497794.1:n.*945G>T | |
| ENST00000648360.1:c.210G>T | ||
| ENST00000648925.1:c.1600G>T | ENSP00000496830.1:p.Ala534Ser | |
| ENST00000649063.2:c.1600G>T MANE Select | ENSP00000497815.1:p.Ala534Ser | |
| ENST00000649315.1:c.1097G>T | ||
| ENST00000649419.1:n.1479G>T | ||
| ENST00000649736.1:n.463G>T | ||
| ENST00000650310.1:c.*171G>T | ENSP00000497395.1:n.*171G>T | |
| ENST00000650581.1:c.402G>T | ||
| ENST00000348624.4:c.1600G>T | ENSP00000297562.4:p.Ala534Ser | |
| ENST00000469614.1:n.619G>T | ||
| ENST00000477454.1:n.381G>T | ||
| ENST00000477680.5:n.1358G>T | ||
| ENST00000496303.5:n.1664G>T | ||
| NM_014855.2:c.1600G>T | NP_055670.1:p.Ala534Ser | |
| XR_242109.1:n.1663G>T | ||
| NM_001364858.1:c.1132G>T | NP_001351787.1:p.Ala378Ser | |
| NM_014855.3:c.1600G>T MANE Select | NP_055670.1:p.Ala534Ser | |
| NR_157345.1:n.1731G>T |