Linked Data
ClinVar Variation Id:
3129739
ClinVar RCV Id:
RCV004418084
dbSNP Id:
rs761893964
ExAC:
15:80883998 G / A
gnomAD v2:
15-80883998-G-A
gnomAD v4:
15-80591657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591657G>A , CM000677.2:g.80591657G>A | GRCh38 |
| NC_000015.9:g.80883998G>A , CM000677.1:g.80883998G>A | GRCh37 |
| NC_000015.8:g.78671053G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2008G>A MANE Select | ENSP00000307479.4:p.Gly670Ser | |
| ENST00000303329.8:c.2008G>A | ENSP00000307479.4:p.Gly670Ser | |
| ENST00000527771.5:c.1975G>A | ENSP00000453792.1:p.Gly659Ser | |
| ENST00000533983.5:c.1975G>A | ENSP00000453651.1:p.Gly659Ser | |
| ENST00000610490.4:c.*306G>A | ENSP00000483762.1:n.*306G>A | |
| ENST00000622346.4:c.2008G>A | ENSP00000479393.1:p.Gly670Ser | |
| NM_014862.3:c.2008G>A | NP_055677.3:p.Gly670Ser | |
| NM_014862.4:c.2008G>A MANE Select | NP_055677.3:p.Gly670Ser |