Linked Data
ClinVar Variation Id:
435787
ClinVar RCV Id:
RCV000501410
dbSNP Id:
rs771978663
gnomAD v2:
1-235872542-C-T
gnomAD v3:
1-235709242-C-T
gnomAD v4:
1-235709242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235709242C>T , CM000663.2:g.235709242C>T | GRCh38 |
| NC_000001.10:g.235872542C>T , CM000663.1:g.235872542C>T | GRCh37 |
| NC_000001.9:g.233939165C>T | NCBI36 |
| NG_007397.1:g.179399G>A , LRG_143:g.179399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1402G>A | ||
| ENST00000697178.1:c.*5687G>A | ENSP00000513163.1:n.*5687G>A | |
| ENST00000697179.1:n.2701G>A | ||
| ENST00000697235.1:c.542G>A | ENSP00000513202.1:p.Arg181His | |
| ENST00000697236.1:c.3456G>A | ENSP00000513203.1:n.3456G>A | |
| ENST00000697237.1:c.741-38G>A | ||
| ENST00000697240.1:c.2126G>A | ENSP00000513205.1:p.Arg709His | |
| ENST00000389793.7:c.9992G>A MANE Select | ENSP00000374443.2:p.Arg3331His | |
| ENST00000389793.6:c.9992G>A | ENSP00000374443.2:p.Arg3331His | |
| ENST00000389794.7:c.*5416G>A | ENSP00000374444.4:n.*5416G>A | |
| ENST00000462376.1:n.411G>A | ||
| ENST00000473037.5:n.4982G>A | ||
| NM_000081.3:c.9992G>A , LRG_143t1:c.9992G>A | NP_000072.2:p.Arg3331His | |
| NM_001301365.1:c.9992G>A , LRG_143t2:c.9992G>A | NP_001288294.1:p.Arg3331His | |
| XM_011544031.1:c.10154G>A | XP_011542333.1:p.Arg3385His | |
| XM_011544032.1:c.10154G>A | XP_011542334.1:p.Arg3385His | |
| XM_011544033.1:c.10154G>A | XP_011542335.1:p.Arg3385His | |
| XM_011544034.1:c.10016G>A | XP_011542336.1:p.Arg3339His | |
| XM_011544036.1:c.7817G>A | XP_011542338.1:p.Arg2606His | |
| XM_011544033.2:c.10154G>A | XP_011542335.1:p.Arg3385His | |
| XM_011544036.2:c.7817G>A | XP_011542338.1:p.Arg2606His | |
| XM_017000150.1:c.10154G>A | XP_016855639.1:p.Arg3385His | |
| NM_000081.4:c.9992G>A MANE Select | NP_000072.2:p.Arg3331His |