Linked Data
ClinVar Variation Id:
3917
ClinVar RCV Id:
RCV000004123
dbSNP Id:
rs121907968
PubMed:
PMID:1301190
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345519A>G , CM000677.2:g.72345519A>G | GRCh38 |
| NC_000015.9:g.72637860A>G , CM000677.1:g.72637860A>G | GRCh37 |
| NC_000015.8:g.70424914A>G | NCBI36 |
| NG_009017.1:g.35661T>C | |
| NG_009017.2:g.35661T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.*113T>C | ENSP00000457521.2:n.*113T>C | |
| ENST00000682061.1:c.*1799T>C | ENSP00000508316.1:n.*1799T>C | |
| ENST00000682064.1:n.1680T>C | ||
| ENST00000682177.1:c.1496T>C | ENSP00000507409.1:n.1496T>C | |
| ENST00000682235.1:n.1476T>C | ||
| ENST00000682461.1:c.1559T>C | ENSP00000507308.1:n.1559T>C | |
| ENST00000682653.1:n.2457T>C | ||
| ENST00000682657.1:c.*1290T>C | ENSP00000507753.1:n.*1290T>C | |
| ENST00000682721.1:c.*1256T>C | ENSP00000507535.1:n.*1256T>C | |
| ENST00000682843.1:c.*1094T>C | ENSP00000508173.1:n.*1094T>C | |
| ENST00000683003.1:c.*1290T>C | ENSP00000507576.1:n.*1290T>C | |
| ENST00000683133.1:c.1637T>C | ENSP00000508108.1:n.1637T>C | |
| ENST00000683243.1:c.*606T>C | ENSP00000507042.1:n.*606T>C | |
| ENST00000683463.1:c.*942T>C | ENSP00000507986.1:n.*942T>C | |
| ENST00000683548.1:n.1911T>C | ||
| ENST00000683579.1:c.*1351T>C | ENSP00000506867.1:n.*1351T>C | |
| ENST00000683587.1:n.1984T>C | ||
| ENST00000683681.1:c.*131T>C | ENSP00000508110.1:n.*131T>C | |
| ENST00000683735.1:c.*1851T>C | ENSP00000508336.1:n.*1851T>C | |
| ENST00000683853.1:c.*258T>C | ENSP00000506834.1:n.*258T>C | |
| ENST00000683860.1:c.*573T>C | ENSP00000507179.1:n.*573T>C | |
| ENST00000683884.1:c.*780T>C | ENSP00000507004.1:n.*780T>C | |
| ENST00000684041.1:c.*586T>C | ENSP00000508382.1:n.*586T>C | |
| ENST00000684125.1:c.*113T>C | ENSP00000507320.1:n.*113T>C | |
| ENST00000684203.1:n.3902T>C | ||
| ENST00000684231.1:c.*863T>C | ENSP00000507748.1:n.*863T>C | |
| ENST00000684263.1:c.*1077T>C | ENSP00000508369.1:n.*1077T>C | |
| ENST00000684305.1:c.1901T>C | ENSP00000506819.1:n.1901T>C | |
| ENST00000684415.1:c.*1004T>C | ENSP00000507227.1:n.*1004T>C | |
| ENST00000684520.1:c.*712T>C | ENSP00000506826.1:n.*712T>C | |
| ENST00000684602.1:c.*1119T>C | ENSP00000507996.1:n.*1119T>C | |
| ENST00000684667.1:c.1784T>C | ENSP00000507003.1:n.1784T>C | |
| ENST00000268097.10:c.1453T>C MANE Select | ENSP00000268097.6:p.Trp485Arg | |
| ENST00000268097.9:c.1453T>C | ENSP00000268097.5:p.Trp485Arg | |
| ENST00000379915.4:c.535T>C | ENSP00000478716.1:p.Trp179Arg | |
| ENST00000564677.5:n.245T>C | ||
| ENST00000565873.1:n.364T>C | ||
| ENST00000566304.5:c.1486T>C | ENSP00000455114.1:p.Trp496Arg | |
| ENST00000567027.5:c.1068T>C | ||
| ENST00000567159.5:c.1453T>C | ENSP00000456489.1:p.Trp485Arg | |
| ENST00000567411.5:c.*974T>C | ENSP00000455545.1:n.*974T>C | |
| ENST00000568777.5:n.6673T>C | ||
| ENST00000569116.1:n.160T>C | ||
| NM_000520.4:c.1453T>C | NP_000511.2:p.Trp485Arg | |
| NM_000520.5:c.1453T>C | NP_000511.2:p.Trp485Arg | |
| NM_001318825.1:c.1486T>C | NP_001305754.1:p.Trp496Arg | |
| NR_134869.1:n.1697T>C | ||
| NM_000520.6:c.1453T>C MANE Select | NP_000511.2:p.Trp485Arg | |
| NM_001318825.2:c.1486T>C | NP_001305754.1:p.Trp496Arg | |
| NR_134869.2:n.1238T>C | ||
| NR_134869.3:n.1238T>C |