Linked Data
ClinVar Variation Id:
1604294
ClinVar RCV Id:
RCV002142490
dbSNP Id:
rs1458405375
gnomAD v2:
15-72640379-C-T
gnomAD v3:
15-72348038-C-T
gnomAD v4:
15-72348038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72348038C>T , CM000677.2:g.72348038C>T | GRCh38 |
| NC_000015.9:g.72640379C>T , CM000677.1:g.72640379C>T | GRCh37 |
| NC_000015.8:g.70427433C>T | NCBI36 |
| NG_009017.1:g.33142G>A | |
| NG_009017.2:g.33142G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.3429G>A | ||
| ENST00000567027.6:c.1073+10G>A | ENSP00000457521.2:n.1073+10G>A | |
| ENST00000682061.1:c.*735+10G>A | ENSP00000508316.1:n.*735+10G>A | |
| ENST00000682177.1:c.1116+10G>A | ENSP00000507409.1:n.1116+10G>A | |
| ENST00000682461.1:c.1179+10G>A | ENSP00000507308.1:n.1179+10G>A | |
| ENST00000682653.1:n.1114G>A | ||
| ENST00000682657.1:c.*483+10G>A | ENSP00000507753.1:n.*483+10G>A | |
| ENST00000682721.1:c.*876+10G>A | ENSP00000507535.1:n.*876+10G>A | |
| ENST00000682843.1:c.*971+10G>A | ENSP00000508173.1:n.*971+10G>A | |
| ENST00000683003.1:c.*483+10G>A | ENSP00000507576.1:n.*483+10G>A | |
| ENST00000683133.1:c.1257+10G>A | ENSP00000508108.1:n.1257+10G>A | |
| ENST00000683228.1:n.1104+10G>A | ||
| ENST00000683243.1:c.*483+10G>A | ENSP00000507042.1:n.*483+10G>A | |
| ENST00000683463.1:c.1073+10G>A | ENSP00000507986.1:n.1073+10G>A | |
| ENST00000683548.1:n.1104+10G>A | ||
| ENST00000683579.1:c.*971+10G>A | ENSP00000506867.1:n.*971+10G>A | |
| ENST00000683587.1:n.1104+10G>A | ||
| ENST00000683681.1:c.1073+10G>A | ENSP00000508110.1:n.1073+10G>A | |
| ENST00000683735.1:c.*971+10G>A | ENSP00000508336.1:n.*971+10G>A | |
| ENST00000683742.1:n.904+10G>A | ||
| ENST00000683853.1:c.1073+10G>A | ENSP00000506834.1:n.1073+10G>A | |
| ENST00000683860.1:c.1073+10G>A | ENSP00000507179.1:n.1073+10G>A | |
| ENST00000683884.1:c.1073+10G>A | ENSP00000507004.1:n.1073+10G>A | |
| ENST00000684041.1:c.1073+10G>A | ENSP00000508382.1:n.1073+10G>A | |
| ENST00000684125.1:c.1073+10G>A | ENSP00000507320.1:n.1073+10G>A | |
| ENST00000684203.1:n.2911+10G>A | ||
| ENST00000684231.1:c.*483+10G>A | ENSP00000507748.1:n.*483+10G>A | |
| ENST00000684263.1:c.*6G>A | ENSP00000508369.1:n.*6G>A | |
| ENST00000684305.1:c.1521+10G>A | ENSP00000506819.1:n.1521+10G>A | |
| ENST00000684415.1:c.*6G>A | ENSP00000507227.1:n.*6G>A | |
| ENST00000684520.1:c.1073+10G>A | ENSP00000506826.1:n.1073+10G>A | |
| ENST00000684602.1:c.*739+10G>A | ENSP00000507996.1:n.*739+10G>A | |
| ENST00000684667.1:c.1404+10G>A | ENSP00000507003.1:n.1404+10G>A | |
| ENST00000268097.10:c.1073+10G>A MANE Select | ENSP00000268097.6:n.1073+10G>A | |
| ENST00000268097.9:c.1073+10G>A | ENSP00000268097.5:n.1073+10G>A | |
| ENST00000379915.4:c.413-1713G>A | ENSP00000478716.1:n.413-1713G>A | |
| ENST00000563762.5:c.825+10G>A | ENSP00000456346.1:n.825+10G>A | |
| ENST00000566304.5:c.1106+10G>A | ENSP00000455114.1:n.1106+10G>A | |
| ENST00000566672.5:c.*483+10G>A | ENSP00000457037.1:n.*483+10G>A | |
| ENST00000567027.5:c.945+10G>A | ||
| ENST00000567159.5:c.1073+10G>A | ENSP00000456489.1:n.1073+10G>A | |
| ENST00000567411.5:c.*594+10G>A | ENSP00000455545.1:n.*594+10G>A | |
| ENST00000568777.5:n.6477+10G>A | ||
| ENST00000569410.5:c.1073+10G>A | ENSP00000457125.1:n.1073+10G>A | |
| NM_000520.4:c.1073+10G>A | NP_000511.2:n.1073+10G>A | |
| NM_000520.5:c.1073+10G>A | NP_000511.2:n.1073+10G>A | |
| NM_001318825.1:c.1106+10G>A | NP_001305754.1:n.1106+10G>A | |
| NR_134869.1:n.1574+10G>A | ||
| NM_000520.6:c.1073+10G>A MANE Select | NP_000511.2:n.1073+10G>A | |
| NM_001318825.2:c.1106+10G>A | NP_001305754.1:n.1106+10G>A | |
| NR_134869.2:n.1115+10G>A | ||
| NR_134869.3:n.1115+10G>A |