Linked Data
ClinVar Variation Id:
3090487
ClinVar RCV Id:
RCV004380906
dbSNP Id:
rs199641142
ExAC:
1:6512095 G / A
gnomAD v2:
1-6512095-G-A
gnomAD v3:
1-6452035-G-A
gnomAD v4:
1-6452035-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6452035G>A , CM000663.2:g.6452035G>A | GRCh38 |
| NC_000001.10:g.6512095G>A , CM000663.1:g.6512095G>A | GRCh37 |
| NC_000001.9:g.6434682G>A | NCBI36 |
| NG_015866.1:g.32248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434576.2:c.294G>A | ||
| ENST00000461727.6:c.566G>A | ENSP00000465308.1:p.Arg189His | |
| ENST00000475228.6:c.332G>A | ENSP00000488721.2:p.Arg111His | |
| ENST00000477679.2:c.319G>A | ||
| ENST00000636330.1:c.2264G>A | ENSP00000490186.1:p.Arg755His | |
| ENST00000636644.1:c.389G>A | ENSP00000490230.1:p.Arg130His | |
| ENST00000645284.1:c.2264G>A MANE Select | ENSP00000496593.1:p.Arg755His | |
| ENST00000377828.5:c.2264G>A | ENSP00000367059.1:p.Arg755His | |
| ENST00000416731.5:c.566G>A | ENSP00000399239.2:p.Arg189His | |
| ENST00000434576.1:c.294G>A | ||
| ENST00000461727.5:c.566G>A | ENSP00000465308.1:p.Arg189His | |
| ENST00000475228.5:c.329G>A | ENSP00000488721.1:p.Arg110His | |
| ENST00000477679.1:n.319G>A | ||
| ENST00000633239.1:c.413G>A | ENSP00000488071.1:p.Arg138His | |
| NM_031475.2:c.2264G>A | NP_113663.2:p.Arg755His | |
| XM_005263501.2:c.2201G>A | XP_005263558.1:p.Arg734His | |
| XM_011542231.1:c.2201G>A | XP_011540533.1:p.Arg734His | |
| XM_011542232.1:c.2174G>A | XP_011540534.1:p.Arg725His | |
| XM_011542233.1:c.1805G>A | XP_011540535.1:p.Arg602His | |
| XM_011542234.1:c.1142G>A | XP_011540536.1:p.Arg381His | |
| XM_011542235.1:c.2174G>A | XP_011540537.1:p.Arg725His | |
| XM_011542236.1:c.389G>A | XP_011540538.1:p.Arg130His | |
| NM_031475.3:c.2264G>A MANE Select | NP_113663.2:p.Arg755His | |
| XM_011542233.2:c.1805G>A | XP_011540535.1:p.Arg602His | |
| XM_011542236.2:c.389G>A | XP_011540538.1:p.Arg130His | |
| XM_017002433.1:c.2201G>A | XP_016857922.1:p.Arg734His | |
| XM_024450116.1:c.2174G>A | XP_024305884.1:p.Arg725His | |
| NM_001367473.1:c.2174G>A | NP_001354402.1:p.Arg725His | |
| NM_001367474.1:c.2201G>A | NP_001354403.1:p.Arg734His |