Linked Data
ClinVar Variation Id:
128986
dbSNP Id:
rs1805165
ExAC:
2:88874891 C / A
gnomAD v2:
2-88874891-C-A
gnomAD v3:
2-88575373-C-A
gnomAD v4:
2-88575373-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575373C>A , CM000664.2:g.88575373C>A | GRCh38 |
| NC_000002.11:g.88874891C>A , CM000664.1:g.88874891C>A | GRCh37 |
| NC_000002.10:g.88656006C>A | NCBI36 |
| NG_016424.1:g.57204G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478003.2:n.1938G>T | ||
| ENST00000682276.1:n.1555G>T | ||
| ENST00000682892.1:c.1657G>T | ENSP00000507214.1:p.Ala553Ser | |
| ENST00000682952.1:n.1749G>T | ||
| ENST00000684455.1:c.1323G>T | ||
| ENST00000684642.1:c.1507G>T | ENSP00000507355.1:p.Ala503Ser | |
| ENST00000684740.1:n.2288G>T | ||
| ENST00000303236.9:c.2110G>T MANE Select | ENSP00000307235.3:p.Ala704Ser | |
| ENST00000652099.1:c.2304G>T | ||
| ENST00000652736.1:n.1986G>T | ||
| ENST00000303236.7:c.2110G>T | ENSP00000307235.3:p.Ala704Ser | |
| ENST00000415570.1:c.1747G>T | ENSP00000412076.1:p.Ala583Ser | |
| ENST00000419748.5:c.1657G>T | ENSP00000408325.1:p.Ala553Ser | |
| ENST00000470706.1:n.36G>T | ||
| NM_001313915.1:c.1657G>T | NP_001300844.1:p.Ala553Ser | |
| NM_004836.5:c.2110G>T | NP_004827.4:p.Ala704Ser | |
| NM_004836.6:c.2110G>T | NP_004827.4:p.Ala704Ser | |
| NR_110236.1:n.1510C>A | ||
| XM_005264649.3:c.1426G>T | XP_005264706.1:p.Ala476Ser | |
| XR_939749.1:n.2389G>T | ||
| XM_017005376.2:c.1426G>T | XP_016860865.1:p.Ala476Ser | |
| NM_004836.7:c.2110G>T MANE Select | NP_004827.4:p.Ala704Ser | |
| NM_001313915.2:c.1657G>T | NP_001300844.1:p.Ala553Ser |