Linked Data
ClinVar Variation Id:
228475
dbSNP Id:
rs769223754
ExAC:
3:180359781 C / A
gnomAD v2:
3-180359781-C-A
gnomAD v3:
3-180641993-C-A
gnomAD v4:
3-180641993-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180641993C>A , CM000665.2:g.180641993C>A | GRCh38 |
| NC_000003.11:g.180359781C>A , CM000665.1:g.180359781C>A | GRCh37 |
| NC_000003.10:g.181842475C>A | NCBI36 |
| NG_029581.1:g.42503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1874G>T MANE Select | ENSP00000417960.2:p.Ser625Ile | |
| ENST00000650641.1:n.1761G>T | ||
| ENST00000651046.1:c.1682G>T | ENSP00000499175.1:p.Ser561Ile | |
| ENST00000651922.1:n.1199G>T | ||
| ENST00000652408.1:n.2011G>T | ||
| ENST00000442201.6:c.1874G>T | ENSP00000405708.2:p.Ser625Ile | |
| ENST00000476379.5:c.1874G>T | ENSP00000417960.1:p.Ser625Ile | |
| NM_181426.1:c.1874G>T | NP_852091.1:p.Ser625Ile | |
| NM_181426.2:c.1874G>T MANE Select | NP_852091.1:p.Ser625Ile |