Linked Data
ClinVar Variation Id:
841839
ClinVar RCV Id:
RCV001044143
dbSNP Id:
rs753646298
ExAC:
17:7357750 G / A
gnomAD v2:
17-7357750-G-A
gnomAD v4:
17-7454431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454431G>A , CM000679.2:g.7454431G>A | GRCh38 |
| NC_000017.10:g.7357750G>A , CM000679.1:g.7357750G>A | GRCh37 |
| NC_000017.9:g.7298474G>A | NCBI36 |
| NG_008026.1:g.14345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.955G>A MANE Select | ENSP00000304290.2:p.Val319Ile | |
| ENST00000306071.6:c.955G>A | ENSP00000304290.2:p.Val319Ile | |
| ENST00000536404.6:c.739G>A | ENSP00000439209.2:p.Val247Ile | |
| ENST00000570557.5:c.618G>A | ||
| ENST00000573209.1:n.1899G>A | ||
| ENST00000576360.1:c.605-13G>A | ENSP00000459092.1:n.605-13G>A | |
| NM_000747.2:c.955G>A | NP_000738.2:p.Val319Ile | |
| NM_000747.3:c.955G>A MANE Select | NP_000738.2:p.Val319Ile |