Linked Data
ClinVar Variation Id:
126510
dbSNP Id:
rs138058578
ExAC:
15:72642919 G / A
gnomAD v2:
15-72642919-G-A
gnomAD v3:
15-72350578-G-A
gnomAD v4:
15-72350578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72350578G>A , CM000677.2:g.72350578G>A | GRCh38 |
| NC_000015.9:g.72642919G>A , CM000677.1:g.72642919G>A | GRCh37 |
| NC_000015.8:g.70429973G>A | NCBI36 |
| NG_009017.1:g.30602C>T | |
| NG_009017.2:g.30602C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.3091C>T | ||
| ENST00000567027.6:c.745C>T | ENSP00000457521.2:p.Arg249Trp | |
| ENST00000682061.1:c.*407C>T | ENSP00000508316.1:n.*407C>T | |
| ENST00000682177.1:c.788C>T | ENSP00000507409.1:n.788C>T | |
| ENST00000682461.1:c.851C>T | ENSP00000507308.1:n.851C>T | |
| ENST00000682653.1:n.776C>T | ||
| ENST00000682657.1:c.*155C>T | ENSP00000507753.1:n.*155C>T | |
| ENST00000682721.1:c.*548C>T | ENSP00000507535.1:n.*548C>T | |
| ENST00000682843.1:c.*643C>T | ENSP00000508173.1:n.*643C>T | |
| ENST00000683003.1:c.*155C>T | ENSP00000507576.1:n.*155C>T | |
| ENST00000683133.1:c.929C>T | ENSP00000508108.1:n.929C>T | |
| ENST00000683228.1:n.776C>T | ||
| ENST00000683243.1:c.*155C>T | ENSP00000507042.1:n.*155C>T | |
| ENST00000683463.1:c.745C>T | ENSP00000507986.1:p.Arg249Trp | |
| ENST00000683548.1:n.776C>T | ||
| ENST00000683579.1:c.*643C>T | ENSP00000506867.1:n.*643C>T | |
| ENST00000683587.1:n.776C>T | ||
| ENST00000683681.1:c.745C>T | ENSP00000508110.1:p.Arg249Trp | |
| ENST00000683735.1:c.*643C>T | ENSP00000508336.1:n.*643C>T | |
| ENST00000683742.1:n.576C>T | ||
| ENST00000683853.1:c.745C>T | ENSP00000506834.1:p.Arg249Trp | |
| ENST00000683860.1:c.745C>T | ENSP00000507179.1:p.Arg249Trp | |
| ENST00000683884.1:c.745C>T | ENSP00000507004.1:p.Arg249Trp | |
| ENST00000684041.1:c.745C>T | ENSP00000508382.1:p.Arg249Trp | |
| ENST00000684125.1:c.745C>T | ENSP00000507320.1:p.Arg249Trp | |
| ENST00000684203.1:n.2583C>T | ||
| ENST00000684231.1:c.*155C>T | ENSP00000507748.1:n.*155C>T | |
| ENST00000684263.1:c.745C>T | ENSP00000508369.1:p.Arg249Trp | |
| ENST00000684305.1:c.1193C>T | ENSP00000506819.1:n.1193C>T | |
| ENST00000684415.1:c.745C>T | ENSP00000507227.1:p.Arg249Trp | |
| ENST00000684520.1:c.745C>T | ENSP00000506826.1:p.Arg249Trp | |
| ENST00000684602.1:c.*411C>T | ENSP00000507996.1:n.*411C>T | |
| ENST00000684667.1:c.1076C>T | ENSP00000507003.1:n.1076C>T | |
| ENST00000268097.10:c.745C>T MANE Select | ENSP00000268097.6:p.Arg249Trp | |
| ENST00000268097.9:c.745C>T | ENSP00000268097.5:p.Arg249Trp | |
| ENST00000379915.4:c.413-4253C>T | ENSP00000478716.1:n.413-4253C>T | |
| ENST00000563762.5:c.678C>T | ENSP00000456346.1:n.678C>T | |
| ENST00000566304.5:c.778C>T | ENSP00000455114.1:p.Arg260Trp | |
| ENST00000566672.5:c.*155C>T | ENSP00000457037.1:n.*155C>T | |
| ENST00000567027.5:c.617C>T | ||
| ENST00000567159.5:c.745C>T | ENSP00000456489.1:p.Arg249Trp | |
| ENST00000567411.5:c.*266C>T | ENSP00000455545.1:n.*266C>T | |
| ENST00000568777.5:n.6149C>T | ||
| ENST00000569410.5:c.745C>T | ENSP00000457125.1:p.Arg249Trp | |
| NM_000520.4:c.745C>T | NP_000511.2:p.Arg249Trp | |
| NM_000520.5:c.745C>T | NP_000511.2:p.Arg249Trp | |
| NM_001318825.1:c.778C>T | NP_001305754.1:p.Arg260Trp | |
| NR_134869.1:n.1246C>T | ||
| NM_000520.6:c.745C>T MANE Select | NP_000511.2:p.Arg249Trp | |
| NM_001318825.2:c.778C>T | NP_001305754.1:p.Arg260Trp | |
| NR_134869.2:n.787C>T | ||
| NR_134869.3:n.787C>T |