Linked Data
ClinVar Variation Id:
2675
ClinVar RCV Id:
RCV000002794
dbSNP Id:
rs137852852
gnomAD v2:
3-4403920-G-A
gnomAD v3:
3-4362236-G-A
gnomAD v4:
3-4362236-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4362236G>A , CM000665.2:g.4362236G>A | GRCh38 |
| NC_000003.11:g.4403920G>A , CM000665.1:g.4403920G>A | GRCh37 |
| NC_000003.10:g.4378920G>A | NCBI36 |
| NG_016225.1:g.110047C>T | |
| NG_016225.2:g.110047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272902.10:c.1033C>T MANE Select | ENSP00000272902.5:p.Arg345Cys | |
| ENST00000272902.9:c.1033C>T | ENSP00000272902.5:p.Arg345Cys | |
| ENST00000383843.9:c.958C>T | ENSP00000373355.5:p.Arg320Cys | |
| ENST00000405420.2:c.973C>T | ENSP00000384977.2:p.Arg325Cys | |
| ENST00000448413.5:c.1014+14094C>T | ENSP00000404384.1:n.1014+14094C>T | |
| ENST00000458465.6:c.637C>T | ENSP00000410060.2:p.Arg213Cys | |
| NM_001164674.1:c.958C>T | NP_001158146.1:p.Arg320Cys | |
| NM_001164675.1:c.973C>T | NP_001158147.1:p.Arg325Cys | |
| NM_182760.3:c.1033C>T | NP_877437.2:p.Arg345Cys | |
| XM_011533623.1:c.1014+14094C>T | XP_011531925.1:n.1014+14094C>T | |
| XM_011533624.1:c.1014+14094C>T | XP_011531926.1:n.1014+14094C>T | |
| XM_011533625.1:c.1014+14094C>T | XP_011531927.1:n.1014+14094C>T | |
| XM_011533626.1:c.1015-10605C>T | XP_011531928.1:n.1015-10605C>T | |
| XM_011533624.3:c.1014+14094C>T | XP_011531926.1:n.1014+14094C>T | |
| XM_011533625.3:c.1014+14094C>T | XP_011531927.1:n.1014+14094C>T | |
| XM_011533626.3:c.1015-10605C>T | XP_011531928.1:n.1015-10605C>T | |
| XM_017006252.2:c.954+48629C>T | XP_016861741.1:n.954+48629C>T | |
| XM_017006253.1:c.939+14094C>T | XP_016861742.1:n.939+14094C>T | |
| XM_017006254.2:c.1014+14094C>T | XP_016861743.1:n.1014+14094C>T | |
| XM_017006255.2:c.1014+14094C>T | XP_016861744.1:n.1014+14094C>T | |
| NM_182760.4:c.1033C>T MANE Select | NP_877437.2:p.Arg345Cys | |
| NM_001164674.2:c.958C>T | NP_001158146.1:p.Arg320Cys | |
| NM_001164675.2:c.973C>T | NP_001158147.1:p.Arg325Cys |