Linked Data
ClinVar Variation Id:
2179599
ClinVar RCV Id:
RCV002615163
dbSNP Id:
rs1805165
gnomAD v2:
2-88874891-C-T
gnomAD v3:
2-88575373-C-T
gnomAD v4:
2-88575373-C-T
COSMIC:
COSM1205103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575373C>T , CM000664.2:g.88575373C>T | GRCh38 |
| NC_000002.11:g.88874891C>T , CM000664.1:g.88874891C>T | GRCh37 |
| NC_000002.10:g.88656006C>T | NCBI36 |
| NG_016424.1:g.57204G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478003.2:n.1938G>A | ||
| ENST00000682276.1:n.1555G>A | ||
| ENST00000682892.1:c.1657G>A | ENSP00000507214.1:p.Ala553Thr | |
| ENST00000682952.1:n.1749G>A | ||
| ENST00000684455.1:c.1323G>A | ||
| ENST00000684642.1:c.1507G>A | ENSP00000507355.1:p.Ala503Thr | |
| ENST00000684740.1:n.2288G>A | ||
| ENST00000303236.9:c.2110G>A MANE Select | ENSP00000307235.3:p.Ala704Thr | |
| ENST00000652099.1:c.2304G>A | ||
| ENST00000652736.1:n.1986G>A | ||
| ENST00000303236.7:c.2110G>A | ENSP00000307235.3:p.Ala704Thr | |
| ENST00000415570.1:c.1747G>A | ENSP00000412076.1:p.Ala583Thr | |
| ENST00000419748.5:c.1657G>A | ENSP00000408325.1:p.Ala553Thr | |
| ENST00000470706.1:n.36G>A | ||
| NM_001313915.1:c.1657G>A | NP_001300844.1:p.Ala553Thr | |
| NM_004836.5:c.2110G>A | NP_004827.4:p.Ala704Thr | |
| NM_004836.6:c.2110G>A | NP_004827.4:p.Ala704Thr | |
| NR_110236.1:n.1510C>T | ||
| XM_005264649.3:c.1426G>A | XP_005264706.1:p.Ala476Thr | |
| XR_939749.1:n.2389G>A | ||
| XM_017005376.2:c.1426G>A | XP_016860865.1:p.Ala476Thr | |
| NM_004836.7:c.2110G>A MANE Select | NP_004827.4:p.Ala704Thr | |
| NM_001313915.2:c.1657G>A | NP_001300844.1:p.Ala553Thr |