Linked Data
ClinVar Variation Id:
1015789
ClinVar RCV Id:
RCV001314702
dbSNP Id:
rs377687329
ExAC:
3:129249862 G / A
gnomAD v2:
3-129249862-G-A
gnomAD v3:
3-129531019-G-A
gnomAD v4:
3-129531019-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531019G>A , CM000665.2:g.129531019G>A | GRCh38 |
| NC_000003.11:g.129249862G>A , CM000665.1:g.129249862G>A | GRCh37 |
| NC_000003.10:g.130732552G>A | NCBI36 |
| NG_009115.1:g.7381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.505G>A MANE Select | ENSP00000296271.3:p.Ala169Thr | |
| ENST00000296271.3:c.505G>A | ENSP00000296271.3:p.Ala169Thr | |
| NM_000539.3:c.505G>A MANE Select | NP_000530.1:p.Ala169Thr |