Linked Data
ClinVar Variation Id:
1698554
ClinVar RCV Id:
RCV002271831
dbSNP Id:
rs757552791
ExAC:
7:107334884 G / A
gnomAD v2:
7-107334884-G-A
gnomAD v4:
7-107694439-G-A
COSMIC:
COSM3877049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107694439G>A , CM000669.2:g.107694439G>A | GRCh38 |
| NC_000007.13:g.107334884G>A , CM000669.1:g.107334884G>A | GRCh37 |
| NC_000007.12:g.107122120G>A | NCBI36 |
| NG_008489.1:g.38805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1300G>A MANE Select | ENSP00000494017.1:p.Ala434Thr | |
| ENST00000644846.1:c.11G>A | ||
| ENST00000265715.7:c.1300G>A | ENSP00000265715.3:p.Ala434Thr | |
| ENST00000460748.1:n.403G>A | ||
| ENST00000477350.5:n.189-182G>A | ||
| ENST00000480841.5:n.149G>A | ||
| ENST00000497446.5:n.315G>A | ||
| NM_000441.1:c.1300G>A | NP_000432.1:p.Ala434Thr | |
| XM_005250425.1:c.1300G>A | XP_005250482.1:p.Ala434Thr | |
| XM_005250425.2:c.1300G>A | XP_005250482.1:p.Ala434Thr | |
| XM_017012318.1:c.1264-182G>A | XP_016867807.1:n.1264-182G>A | |
| NM_000441.2:c.1300G>A MANE Select | NP_000432.1:p.Ala434Thr |