Linked Data
ClinVar Variation Id:
436931
dbSNP Id:
rs143935839
ExAC:
1:43896413 G / A
gnomAD v2:
1-43896413-G-A
gnomAD v3:
1-43430742-G-A
gnomAD v4:
1-43430742-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43430742G>A , CM000663.2:g.43430742G>A | GRCh38 |
| NC_000001.10:g.43896413G>A , CM000663.1:g.43896413G>A | GRCh37 |
| NC_000001.9:g.43669000G>A | NCBI36 |
| NG_029091.1:g.45858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562955.2:c.4556G>A | ENSP00000457168.1:p.Arg1519His | |
| ENST00000634258.3:c.4727G>A MANE Select | ENSP00000489255.1:p.Arg1576His | |
| ENST00000562955.1:c.4556G>A | ENSP00000457168.1:p.Arg1519His | |
| ENST00000634258.1:c.4727G>A | ENSP00000489255.1:p.Arg1576His | |
| NM_015284.3:c.4556G>A | NP_056099.3:p.Arg1519His | |
| XM_005270686.2:c.4790G>A | XP_005270743.1:p.Arg1597His | |
| XM_006710501.2:c.4727G>A | XP_006710564.1:p.Arg1576His | |
| XM_011541103.1:c.4844G>A | XP_011539405.1:p.Arg1615His | |
| XM_011541104.1:c.4673G>A | XP_011539406.1:p.Arg1558His | |
| XM_011541105.1:c.4670G>A | XP_011539407.1:p.Arg1557His | |
| XM_011541106.1:c.4670G>A | XP_011539408.1:p.Arg1557His | |
| XM_011541107.1:c.4271G>A | XP_011539409.1:p.Arg1424His | |
| NM_001365999.1:c.4727G>A MANE Select | NP_001352928.1:p.Arg1576His | |
| XM_005270686.3:c.4790G>A | XP_005270743.1:p.Arg1597His | |
| XM_011541106.3:c.4670G>A | XP_011539408.1:p.Arg1557His | |
| XM_011541107.2:c.4271G>A | XP_011539409.1:p.Arg1424His | |
| XM_017000819.1:c.4790G>A | XP_016856308.1:p.Arg1597His | |
| XM_017000820.1:c.4619G>A | XP_016856309.1:p.Arg1540His | |
| XM_017000821.1:c.3419G>A | XP_016856310.1:p.Arg1140His | |
| XR_001737075.1:n.4873G>A | ||
| XR_001737076.1:n.4875G>A | ||
| XR_001737077.1:n.4875G>A | ||
| XR_002956151.1:n.4873G>A | ||
| NM_015284.4:c.4556G>A | NP_056099.3:p.Arg1519His |