Linked Data
ClinVar Variation Id:
65578
ClinVar RCV Id:
RCV000055782
dbSNP Id:
rs149165166
gnomAD v3:
3-120650848-A-C
gnomAD v4:
3-120650848-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120650848A>C , CM000665.2:g.120650848A>C | GRCh38 |
| NC_000003.11:g.120369695A>C , CM000665.1:g.120369695A>C | GRCh37 |
| NC_000003.10:g.121852385A>C | NCBI36 |
| NG_011957.1:g.36634T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.360T>G MANE Select | ENSP00000283871.5:p.Cys120Trp | |
| ENST00000283871.9:c.360T>G | ENSP00000283871.5:p.Cys120Trp | |
| ENST00000476082.2:c.237T>G | ENSP00000419560.2:p.Cys79Trp | |
| ENST00000485313.5:n.468T>G | ||
| NM_000187.3:c.360T>G | NP_000178.2:p.Cys120Trp | |
| XM_005247412.1:c.360T>G | XP_005247469.1:p.Cys120Trp | |
| XM_005247413.1:c.360T>G | XP_005247470.1:p.Cys120Trp | |
| XM_005247414.3:c.360T>G | XP_005247471.1:p.Cys120Trp | |
| XM_011512746.1:c.360T>G | XP_011511048.1:p.Cys120Trp | |
| XM_005247412.2:c.360T>G | XP_005247469.1:p.Cys120Trp | |
| XM_005247413.2:c.360T>G | XP_005247470.1:p.Cys120Trp | |
| XM_005247414.5:c.360T>G | XP_005247471.1:p.Cys120Trp | |
| XM_011512746.2:c.360T>G | XP_011511048.1:p.Cys120Trp | |
| XM_017006277.2:c.-64T>G | XP_016861766.1:n.-64T>G | |
| NM_000187.4:c.360T>G MANE Select | NP_000178.2:p.Cys120Trp |