Linked Data
ClinVar Variation Id:
574792
ClinVar RCV Id:
RCV000696817
dbSNP Id:
rs796396920
gnomAD v2:
7-21856235-G-A
gnomAD v3:
7-21816617-G-A
gnomAD v4:
7-21816617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816617G>A , CM000669.2:g.21816617G>A | GRCh38 |
| NC_000007.13:g.21856235G>A , CM000669.1:g.21856235G>A | GRCh37 |
| NC_000007.12:g.21822760G>A | NCBI36 |
| NG_012886.2:g.278403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10483G>A MANE Select | ENSP00000475939.1:p.Val3495Met | |
| ENST00000328843.10:c.10504G>A | ENSP00000330671.7:p.Val3502Met | |
| ENST00000409508.7:c.10483G>A | ENSP00000475939.1:p.Val3495Met | |
| ENST00000620169.4:c.10504G>A | ENSP00000481693.1:p.Val3502Met | |
| NM_001277115.1:c.10483G>A | NP_001264044.1:p.Val3495Met | |
| NM_001277115.2:c.10483G>A MANE Select | NP_001264044.1:p.Val3495Met |