Linked Data
ClinVar Variation Id:
257931
dbSNP Id:
rs145239537
ExAC:
7:21778438 G / A
gnomAD v2:
7-21778438-G-A
gnomAD v3:
7-21738820-G-A
gnomAD v4:
7-21738820-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21738820G>A , CM000669.2:g.21738820G>A | GRCh38 |
| NC_000007.13:g.21778438G>A , CM000669.1:g.21778438G>A | GRCh37 |
| NC_000007.12:g.21744963G>A | NCBI36 |
| NG_012886.2:g.200606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.7765G>A MANE Select | ENSP00000475939.1:p.Val2589Ile | |
| ENST00000328843.10:c.7786G>A | ENSP00000330671.7:p.Val2596Ile | |
| ENST00000409508.7:c.7765G>A | ENSP00000475939.1:p.Val2589Ile | |
| ENST00000605912.1:c.325G>A | ENSP00000476068.1:p.Val109Ile | |
| ENST00000620169.4:c.7786G>A | ENSP00000481693.1:p.Val2596Ile | |
| NM_001277115.1:c.7765G>A | NP_001264044.1:p.Val2589Ile | |
| NM_001277115.2:c.7765G>A MANE Select | NP_001264044.1:p.Val2589Ile |