Linked Data
ClinVar Variation Id:
256352
dbSNP Id:
rs117513345
ExAC:
15:72642905 C / T
gnomAD v2:
15-72642905-C-T
gnomAD v3:
15-72350564-C-T
gnomAD v4:
15-72350564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72350564C>T , CM000677.2:g.72350564C>T | GRCh38 |
| NC_000015.9:g.72642905C>T , CM000677.1:g.72642905C>T | GRCh37 |
| NC_000015.8:g.70429959C>T | NCBI36 |
| NG_009017.1:g.30616G>A | |
| NG_009017.2:g.30616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.3105G>A | ||
| ENST00000567027.6:c.759G>A | ENSP00000457521.2:p.Val253= | |
| ENST00000682061.1:c.*421G>A | ENSP00000508316.1:n.*421G>A | |
| ENST00000682177.1:c.802G>A | ENSP00000507409.1:n.802G>A | |
| ENST00000682461.1:c.865G>A | ENSP00000507308.1:n.865G>A | |
| ENST00000682653.1:n.790G>A | ||
| ENST00000682657.1:c.*169G>A | ENSP00000507753.1:n.*169G>A | |
| ENST00000682721.1:c.*562G>A | ENSP00000507535.1:n.*562G>A | |
| ENST00000682843.1:c.*657G>A | ENSP00000508173.1:n.*657G>A | |
| ENST00000683003.1:c.*169G>A | ENSP00000507576.1:n.*169G>A | |
| ENST00000683133.1:c.943G>A | ENSP00000508108.1:n.943G>A | |
| ENST00000683228.1:n.790G>A | ||
| ENST00000683243.1:c.*169G>A | ENSP00000507042.1:n.*169G>A | |
| ENST00000683463.1:c.759G>A | ENSP00000507986.1:p.Val253= | |
| ENST00000683548.1:n.790G>A | ||
| ENST00000683579.1:c.*657G>A | ENSP00000506867.1:n.*657G>A | |
| ENST00000683587.1:n.790G>A | ||
| ENST00000683681.1:c.759G>A | ENSP00000508110.1:p.Val253= | |
| ENST00000683735.1:c.*657G>A | ENSP00000508336.1:n.*657G>A | |
| ENST00000683742.1:n.590G>A | ||
| ENST00000683853.1:c.759G>A | ENSP00000506834.1:p.Val253= | |
| ENST00000683860.1:c.759G>A | ENSP00000507179.1:p.Val253= | |
| ENST00000683884.1:c.759G>A | ENSP00000507004.1:p.Val253= | |
| ENST00000684041.1:c.759G>A | ENSP00000508382.1:p.Val253= | |
| ENST00000684125.1:c.759G>A | ENSP00000507320.1:p.Val253= | |
| ENST00000684203.1:n.2597G>A | ||
| ENST00000684231.1:c.*169G>A | ENSP00000507748.1:n.*169G>A | |
| ENST00000684263.1:c.759G>A | ENSP00000508369.1:p.Val253= | |
| ENST00000684305.1:c.1207G>A | ENSP00000506819.1:n.1207G>A | |
| ENST00000684415.1:c.759G>A | ENSP00000507227.1:p.Val253= | |
| ENST00000684520.1:c.759G>A | ENSP00000506826.1:p.Val253= | |
| ENST00000684602.1:c.*425G>A | ENSP00000507996.1:n.*425G>A | |
| ENST00000684667.1:c.1090G>A | ENSP00000507003.1:n.1090G>A | |
| ENST00000268097.10:c.759G>A MANE Select | ENSP00000268097.6:p.Val253= | |
| ENST00000268097.9:c.759G>A | ENSP00000268097.5:p.Val253= | |
| ENST00000379915.4:c.413-4239G>A | ENSP00000478716.1:n.413-4239G>A | |
| ENST00000563762.5:c.692G>A | ENSP00000456346.1:n.692G>A | |
| ENST00000566304.5:c.792G>A | ENSP00000455114.1:p.Val264= | |
| ENST00000566672.5:c.*169G>A | ENSP00000457037.1:n.*169G>A | |
| ENST00000567027.5:c.631G>A | ||
| ENST00000567159.5:c.759G>A | ENSP00000456489.1:p.Val253= | |
| ENST00000567411.5:c.*280G>A | ENSP00000455545.1:n.*280G>A | |
| ENST00000568777.5:n.6163G>A | ||
| ENST00000569410.5:c.759G>A | ENSP00000457125.1:p.Val253= | |
| NM_000520.4:c.759G>A | NP_000511.2:p.Val253= | |
| NM_000520.5:c.759G>A | NP_000511.2:p.Val253= | |
| NM_001318825.1:c.792G>A | NP_001305754.1:p.Val264= | |
| NR_134869.1:n.1260G>A | ||
| NM_000520.6:c.759G>A MANE Select | NP_000511.2:p.Val253= | |
| NM_001318825.2:c.792G>A | NP_001305754.1:p.Val264= | |
| NR_134869.2:n.801G>A | ||
| NR_134869.3:n.801G>A |