Linked Data
ClinVar Variation Id:
253043
ClinVar RCV Id:
RCV000239543
dbSNP Id:
rs879255608
PubMed:
PMID:26259131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4117870G>C , CM000671.2:g.4117870G>C | GRCh38 |
| NC_000009.11:g.4117870G>C , CM000671.1:g.4117870G>C | GRCh37 |
| NC_000009.10:g.4107870G>C | NCBI36 |
| NG_011782.1:g.187166C>G | |
| NG_011782.2:g.187166C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491889.6:c.*971C>G | ENSP00000419914.1:n.*971C>G | |
| ENST00000645252.2:n.152+33070C>G | ||
| ENST00000682749.1:c.1143C>G | ENSP00000507306.1:p.Cys381Trp | |
| ENST00000682846.1:c.131+7864C>G | ENSP00000507527.1:n.131+7864C>G | |
| ENST00000381971.8:c.1608C>G MANE Select | ENSP00000371398.3:p.Cys536Trp | |
| ENST00000645252.1:n.152+33070C>G | ||
| ENST00000324333.14:c.1143C>G | ENSP00000325494.10:p.Cys381Trp | |
| ENST00000381971.7:c.1608C>G | ENSP00000371398.3:p.Cys536Trp | |
| ENST00000467497.6:n.148C>G | ||
| NM_001042413.1:c.1608C>G | NP_001035878.1:p.Cys536Trp | |
| NM_152629.3:c.1143C>G | NP_689842.3:p.Cys381Trp | |
| XM_005251386.3:c.1143C>G | XP_005251443.1:p.Cys381Trp | |
| XM_005251387.3:c.942C>G | XP_005251444.1:p.Cys314Trp | |
| XM_005251388.3:c.942C>G | XP_005251445.1:p.Cys314Trp | |
| XM_005251389.3:c.1608C>G | XP_005251446.1:p.Cys536Trp | |
| XM_006716731.2:c.1608C>G | XP_006716794.1:p.Cys536Trp | |
| XM_011517763.1:c.1608C>G | XP_011516065.1:p.Cys536Trp | |
| XM_011517764.1:c.1608C>G | XP_011516066.1:p.Cys536Trp | |
| XM_011517765.1:c.1608C>G | XP_011516067.1:p.Cys536Trp | |
| XM_011517766.1:c.1143C>G | XP_011516068.1:p.Cys381Trp | |
| XM_011517767.1:c.942C>G | XP_011516069.1:p.Cys314Trp | |
| XM_011517768.1:c.1608C>G | XP_011516070.1:p.Cys536Trp | |
| XM_011517769.1:c.1608C>G | XP_011516071.1:p.Cys536Trp | |
| XR_929206.1:n.2374C>G | ||
| XM_005251386.4:c.1143C>G | XP_005251443.1:p.Cys381Trp | |
| XM_005251387.4:c.942C>G | XP_005251444.1:p.Cys314Trp | |
| XM_005251388.4:c.942C>G | XP_005251445.1:p.Cys314Trp | |
| XM_005251389.5:c.1608C>G | XP_005251446.1:p.Cys536Trp | |
| XM_006716731.3:c.1608C>G | XP_006716794.1:p.Cys536Trp | |
| XM_011517763.2:c.1608C>G | XP_011516065.1:p.Cys536Trp | |
| XM_011517764.2:c.1608C>G | XP_011516066.1:p.Cys536Trp | |
| XM_011517765.2:c.1608C>G | XP_011516067.1:p.Cys536Trp | |
| XM_011517766.2:c.1143C>G | XP_011516068.1:p.Cys381Trp | |
| XM_011517767.3:c.942C>G | XP_011516069.1:p.Cys314Trp | |
| XM_011517769.2:c.1608C>G | XP_011516071.1:p.Cys536Trp | |
| XM_017014361.1:c.1143C>G | XP_016869850.1:p.Cys381Trp | |
| XR_929206.2:n.2370C>G | ||
| NM_001042413.2:c.1608C>G MANE Select | NP_001035878.1:p.Cys536Trp | |
| NM_152629.4:c.1143C>G | NP_689842.3:p.Cys381Trp |