Linked Data
ClinVar Variation Id:
3012586
ClinVar RCV Id:
RCV003877697
dbSNP Id:
rs754155714
ExAC:
7:21675696 G / A
gnomAD v2:
7-21675696-G-A
gnomAD v3:
7-21636078-G-A
gnomAD v4:
7-21636078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636078G>A , CM000669.2:g.21636078G>A | GRCh38 |
| NC_000007.13:g.21675696G>A , CM000669.1:g.21675696G>A | GRCh37 |
| NC_000007.12:g.21642221G>A | NCBI36 |
| NG_012886.2:g.97864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4708G>A MANE Select | ENSP00000475939.1:p.Val1570Met | |
| ENST00000328843.10:c.4723G>A | ENSP00000330671.7:p.Val1575Met | |
| ENST00000409508.7:c.4708G>A | ENSP00000475939.1:p.Val1570Met | |
| ENST00000465593.1:n.734G>A | ||
| ENST00000620169.4:c.4723G>A | ENSP00000481693.1:p.Val1575Met | |
| NM_001277115.1:c.4708G>A | NP_001264044.1:p.Val1570Met | |
| NM_001277115.2:c.4708G>A MANE Select | NP_001264044.1:p.Val1570Met |