Linked Data
ClinVar Variation Id:
858119
ClinVar RCV Id:
RCV001063925
dbSNP Id:
rs782241013
ExAC:
X:49074433 C / T
gnomAD v2:
X-49074433-C-T
gnomAD v3:
X-49217974-C-T
gnomAD v4:
X-49217974-C-T
COSMIC:
COSM3424838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217974C>T , CM000685.2:g.49217974C>T | GRCh38 |
| NC_000023.10:g.49074433C>T , CM000685.1:g.49074433C>T | GRCh37 |
| NC_000023.9:g.48961377C>T | NCBI36 |
| NG_009095.2:g.20393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2960G>A MANE Select | ENSP00000321618.6:p.Arg987Gln | |
| ENST00000323022.9:c.2960G>A | ENSP00000321618.5:p.Arg987Gln | |
| ENST00000376251.5:c.2798G>A | ENSP00000365427.1:p.Arg933Gln | |
| ENST00000376265.2:c.2993G>A | ENSP00000365441.2:p.Arg998Gln | |
| NM_001256789.2:c.2960G>A | NP_001243718.1:p.Arg987Gln | |
| NM_001256790.2:c.2798G>A | NP_001243719.1:p.Arg933Gln | |
| NM_005183.3:c.2993G>A | NP_005174.2:p.Arg998Gln | |
| XM_011543983.1:c.2798G>A | XP_011542285.1:p.Arg933Gln | |
| XM_011543983.2:c.2798G>A | XP_011542285.1:p.Arg933Gln | |
| XM_017029836.1:c.227G>A | XP_016885325.1:p.Arg76Gln | |
| NM_001256789.3:c.2960G>A MANE Select | NP_001243718.1:p.Arg987Gln | |
| NM_001256790.3:c.2798G>A | NP_001243719.1:p.Arg933Gln | |
| NM_005183.4:c.2993G>A | NP_005174.2:p.Arg998Gln |