Linked Data
ClinVar Variation Id:
438137
ClinVar RCV Id:
RCV000504753
dbSNP Id:
rs1555968526
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38323427A>C , CM000685.2:g.38323427A>C | GRCh38 |
| NC_000023.10:g.38182680A>C , CM000685.1:g.38182680A>C | GRCh37 |
| NC_000023.9:g.38067624A>C | NCBI36 |
| NG_009553.1:g.9109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642170.1:n.536T>G | ||
| ENST00000642373.1:c.126T>G | ENSP00000496030.1:p.Cys42Trp | |
| ENST00000642395.2:c.126T>G | ENSP00000493468.2:p.Cys42Trp | |
| ENST00000642558.1:c.126T>G | ENSP00000496427.1:p.Cys42Trp | |
| ENST00000642739.1:c.126T>G | ENSP00000493596.1:p.Cys42Trp | |
| ENST00000644238.1:c.126T>G | ENSP00000496728.1:p.Cys42Trp | |
| ENST00000644337.1:c.126T>G | ENSP00000494557.1:p.Cys42Trp | |
| ENST00000645032.1:c.126T>G MANE Select | ENSP00000495537.1:p.Cys42Trp | |
| ENST00000645124.1:c.126T>G | ENSP00000496446.1:p.Cys42Trp | |
| ENST00000646020.1:c.126T>G | ENSP00000494745.1:p.Cys42Trp | |
| ENST00000647261.1:c.126T>G | ENSP00000493681.1:p.Cys42Trp | |
| ENST00000318842.11:c.126T>G | ENSP00000322219.6:p.Cys42Trp | |
| ENST00000339363.7:c.126T>G | ENSP00000343671.3:p.Cys42Trp | |
| ENST00000378505.6:c.126T>G | ENSP00000367766.2:p.Cys42Trp | |
| ENST00000465127.1:c.172-342694A>C | ENSP00000417050.1:n.172-342694A>C | |
| ENST00000474584.5:c.126T>G | ENSP00000418926.1:p.Cys42Trp | |
| ENST00000482855.5:c.126T>G | ENSP00000419276.1:p.Cys42Trp | |
| NM_000328.2:c.126T>G | NP_000319.1:p.Cys42Trp | |
| NM_001034853.1:c.126T>G | NP_001030025.1:p.Cys42Trp | |
| XM_005272633.1:c.126T>G | XP_005272690.1:p.Cys42Trp | |
| XM_011543940.1:c.126T>G | XP_011542242.1:p.Cys42Trp | |
| XM_005272633.3:c.126T>G | XP_005272690.1:p.Cys42Trp | |
| XM_011543940.3:c.126T>G | XP_011542242.1:p.Cys42Trp | |
| XM_017029712.2:c.126T>G | XP_016885201.1:p.Cys42Trp | |
| NM_001367245.1:c.126T>G | NP_001354174.1:p.Cys42Trp | |
| NM_001367246.1:c.126T>G | NP_001354175.1:p.Cys42Trp | |
| NM_001367247.1:c.126T>G | NP_001354176.1:p.Cys42Trp | |
| NM_001367248.1:c.156T>G | NP_001354177.1:p.Cys52Trp | |
| NM_001367249.1:c.126T>G | NP_001354178.1:p.Cys42Trp | |
| NM_001367250.1:c.126T>G | NP_001354179.1:p.Cys42Trp | |
| NM_001367251.1:c.126T>G | NP_001354180.1:p.Cys42Trp | |
| NR_159803.1:n.268T>G | ||
| NR_159804.1:n.268T>G | ||
| NR_159805.1:n.268T>G | ||
| NR_159806.1:n.268T>G | ||
| NR_159807.1:n.268T>G | ||
| NR_159808.1:n.536T>G | ||
| NM_000328.3:c.126T>G | NP_000319.1:p.Cys42Trp | |
| NM_001034853.2:c.126T>G MANE Select | NP_001030025.1:p.Cys42Trp |