Linked Data
ClinVar Variation Id:
985848
dbSNP Id:
rs147945173
ExAC:
X:118975179 T / C
gnomAD v2:
X-118975179-T-C
gnomAD v3:
X-119841216-T-C
gnomAD v4:
X-119841216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119841216T>C , CM000685.2:g.119841216T>C | GRCh38 |
| NC_000023.10:g.118975179T>C , CM000685.1:g.118975179T>C | GRCh37 |
| NC_000023.9:g.118859207T>C | NCBI36 |
| NG_009241.1:g.16790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276201.7:c.667A>G MANE Select | ENSP00000276201.3:p.Ile223Val | |
| ENST00000276201.6:c.667A>G | ENSP00000276201.2:p.Ile223Val | |
| ENST00000345865.6:c.667A>G | ENSP00000245418.2:p.Ile223Val | |
| ENST00000478840.1:n.255A>G | ||
| ENST00000619445.1:c.624+519A>G | ENSP00000481698.1:n.624+519A>G | |
| NM_023010.3:c.667A>G | NP_075386.1:p.Ile223Val | |
| NM_080632.2:c.667A>G | NP_542199.1:p.Ile223Val | |
| XM_005262458.3:c.667A>G | XP_005262515.1:p.Ile223Val | |
| XM_006724780.2:c.667A>G | XP_006724843.1:p.Ile223Val | |
| XM_006724781.2:c.667A>G | XP_006724844.1:p.Ile223Val | |
| XM_011531378.1:c.667A>G | XP_011529680.1:p.Ile223Val | |
| XM_011531379.1:c.667A>G | XP_011529681.1:p.Ile223Val | |
| XM_017029737.1:c.667A>G | XP_016885226.1:p.Ile223Val | |
| XM_017029738.1:c.667A>G | XP_016885227.1:p.Ile223Val | |
| XM_017029739.1:c.667A>G | XP_016885228.1:p.Ile223Val | |
| XM_017029740.1:c.667A>G | XP_016885229.1:p.Ile223Val | |
| NM_080632.3:c.667A>G MANE Select | NP_542199.1:p.Ile223Val | |
| NM_023010.4:c.667A>G | NP_075386.1:p.Ile223Val |