Linked Data
ClinVar Variation Id:
1741704
ClinVar RCV Id:
RCV002342271
dbSNP Id:
rs768885285
ExAC:
12:8800751 C / T
gnomAD v2:
12-8800751-C-T
gnomAD v3:
12-8648155-C-T
gnomAD v4:
12-8648155-C-T
COSMIC:
COSM282775
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8648155C>T , CM000674.2:g.8648155C>T | GRCh38 |
| NC_000012.11:g.8800751C>T , CM000674.1:g.8800751C>T | GRCh37 |
| NC_000012.10:g.8692018C>T | NCBI36 |
| NG_041814.1:g.19734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.458G>A MANE Select | ENSP00000352455.2:p.Arg153His | |
| ENST00000359478.6:c.458G>A | ENSP00000352455.2:p.Arg153His | |
| ENST00000396549.6:c.428G>A | ENSP00000379798.2:p.Arg143His | |
| ENST00000433590.6:c.383G>A | ENSP00000411997.2:p.Arg128His | |
| ENST00000535336.5:c.266G>A | ENSP00000438525.1:p.Arg89His | |
| ENST00000535411.5:c.427G>A | ||
| ENST00000537009.5:c.*110G>A | ENSP00000439289.1:n.*110G>A | |
| ENST00000538694.5:n.417G>A | ||
| ENST00000540087.5:c.428G>A | ENSP00000440496.1:p.Arg143His | |
| ENST00000543369.5:c.392G>A | ENSP00000441492.1:p.Arg131His | |
| ENST00000543467.5:c.176G>A | ENSP00000444531.1:p.Arg59His | |
| ENST00000544211.5:c.*110G>A | ENSP00000443839.1:n.*110G>A | |
| NM_001297709.1:c.428G>A | NP_001284638.1:p.Arg143His | |
| NM_001297710.1:c.392G>A | NP_001284639.1:p.Arg131His | |
| NM_001297711.1:c.383G>A | NP_001284640.1:p.Arg128His | |
| NM_001297712.1:c.266G>A | NP_001284641.1:p.Arg89His | |
| NM_003480.3:c.458G>A | NP_003471.1:p.Arg153His | |
| NR_123733.1:n.791G>A | ||
| NR_123734.1:n.761G>A | ||
| NM_003480.4:c.458G>A MANE Select | NP_003471.1:p.Arg153His | |
| NM_001297709.2:c.428G>A | NP_001284638.1:p.Arg143His | |
| NM_001297710.2:c.392G>A | NP_001284639.1:p.Arg131His | |
| NM_001297711.2:c.383G>A | NP_001284640.1:p.Arg128His | |
| NM_001297712.2:c.266G>A | NP_001284641.1:p.Arg89His | |
| NR_123733.2:n.729G>A | ||
| NR_123734.2:n.699G>A |