Linked Data
ClinVar Variation Id:
2895118
ClinVar RCV Id:
RCV003624231
dbSNP Id:
rs774086911
ExAC:
X:118975187 C / T
gnomAD v2:
X-118975187-C-T
gnomAD v3:
X-119841224-C-T
gnomAD v4:
X-119841224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119841224C>T , CM000685.2:g.119841224C>T | GRCh38 |
| NC_000023.10:g.118975187C>T , CM000685.1:g.118975187C>T | GRCh37 |
| NC_000023.9:g.118859215C>T | NCBI36 |
| NG_009241.1:g.16782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276201.7:c.659G>A MANE Select | ENSP00000276201.3:p.Arg220Lys | |
| ENST00000276201.6:c.659G>A | ENSP00000276201.2:p.Arg220Lys | |
| ENST00000345865.6:c.659G>A | ENSP00000245418.2:p.Arg220Lys | |
| ENST00000478840.1:n.247G>A | ||
| ENST00000619445.1:c.624+511G>A | ENSP00000481698.1:n.624+511G>A | |
| NM_023010.3:c.659G>A | NP_075386.1:p.Arg220Lys | |
| NM_080632.2:c.659G>A | NP_542199.1:p.Arg220Lys | |
| XM_005262458.3:c.659G>A | XP_005262515.1:p.Arg220Lys | |
| XM_006724780.2:c.659G>A | XP_006724843.1:p.Arg220Lys | |
| XM_006724781.2:c.659G>A | XP_006724844.1:p.Arg220Lys | |
| XM_011531378.1:c.659G>A | XP_011529680.1:p.Arg220Lys | |
| XM_011531379.1:c.659G>A | XP_011529681.1:p.Arg220Lys | |
| XM_017029737.1:c.659G>A | XP_016885226.1:p.Arg220Lys | |
| XM_017029738.1:c.659G>A | XP_016885227.1:p.Arg220Lys | |
| XM_017029739.1:c.659G>A | XP_016885228.1:p.Arg220Lys | |
| XM_017029740.1:c.659G>A | XP_016885229.1:p.Arg220Lys | |
| NM_080632.3:c.659G>A MANE Select | NP_542199.1:p.Arg220Lys | |
| NM_023010.4:c.659G>A | NP_075386.1:p.Arg220Lys |