Linked Data
dbSNP Id:
rs773338562
ExAC:
15:72637852 G / T
gnomAD v2:
15-72637852-G-T
gnomAD v3:
15-72345511-G-T
gnomAD v4:
15-72345511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345511G>T , CM000677.2:g.72345511G>T | GRCh38 |
| NC_000015.9:g.72637852G>T , CM000677.1:g.72637852G>T | GRCh37 |
| NC_000015.8:g.70424906G>T | NCBI36 |
| NG_009017.1:g.35669C>A | |
| NG_009017.2:g.35669C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*121C>A | ENSP00000457521.2:n.*121C>A | |
| ENST00000682061.1:c.*1807C>A | ENSP00000508316.1:n.*1807C>A | |
| ENST00000682064.1:n.1688C>A | ||
| ENST00000682177.1:c.1504C>A | ENSP00000507409.1:n.1504C>A | |
| ENST00000682235.1:n.1484C>A | ||
| ENST00000682461.1:c.1567C>A | ENSP00000507308.1:n.1567C>A | |
| ENST00000682653.1:n.2465C>A | ||
| ENST00000682657.1:c.*1298C>A | ENSP00000507753.1:n.*1298C>A | |
| ENST00000682721.1:c.*1264C>A | ENSP00000507535.1:n.*1264C>A | |
| ENST00000682843.1:c.*1102C>A | ENSP00000508173.1:n.*1102C>A | |
| ENST00000683003.1:c.*1298C>A | ENSP00000507576.1:n.*1298C>A | |
| ENST00000683133.1:c.1645C>A | ENSP00000508108.1:n.1645C>A | |
| ENST00000683243.1:c.*614C>A | ENSP00000507042.1:n.*614C>A | |
| ENST00000683463.1:c.*950C>A | ENSP00000507986.1:n.*950C>A | |
| ENST00000683548.1:n.1919C>A | ||
| ENST00000683579.1:c.*1359C>A | ENSP00000506867.1:n.*1359C>A | |
| ENST00000683587.1:n.1992C>A | ||
| ENST00000683681.1:c.*139C>A | ENSP00000508110.1:n.*139C>A | |
| ENST00000683735.1:c.*1859C>A | ENSP00000508336.1:n.*1859C>A | |
| ENST00000683853.1:c.*266C>A | ENSP00000506834.1:n.*266C>A | |
| ENST00000683860.1:c.*581C>A | ENSP00000507179.1:n.*581C>A | |
| ENST00000683884.1:c.*788C>A | ENSP00000507004.1:n.*788C>A | |
| ENST00000684041.1:c.*594C>A | ENSP00000508382.1:n.*594C>A | |
| ENST00000684125.1:c.*121C>A | ENSP00000507320.1:n.*121C>A | |
| ENST00000684203.1:n.3910C>A | ||
| ENST00000684231.1:c.*871C>A | ENSP00000507748.1:n.*871C>A | |
| ENST00000684263.1:c.*1085C>A | ENSP00000508369.1:n.*1085C>A | |
| ENST00000684305.1:c.1909C>A | ENSP00000506819.1:n.1909C>A | |
| ENST00000684415.1:c.*1012C>A | ENSP00000507227.1:n.*1012C>A | |
| ENST00000684520.1:c.*720C>A | ENSP00000506826.1:n.*720C>A | |
| ENST00000684602.1:c.*1127C>A | ENSP00000507996.1:n.*1127C>A | |
| ENST00000684667.1:c.1792C>A | ENSP00000507003.1:n.1792C>A | |
| ENST00000268097.10:c.1461C>A MANE Select | ENSP00000268097.6:p.Asn487Lys | |
| ENST00000268097.9:c.1461C>A | ENSP00000268097.5:p.Asn487Lys | |
| ENST00000379915.4:c.543C>A | ENSP00000478716.1:p.Asn181Lys | |
| ENST00000564677.5:n.253C>A | ||
| ENST00000565873.1:n.372C>A | ||
| ENST00000566304.5:c.1494C>A | ENSP00000455114.1:p.Asn498Lys | |
| ENST00000567027.5:c.1076C>A | ||
| ENST00000567159.5:c.1461C>A | ENSP00000456489.1:p.Asn487Lys | |
| ENST00000567411.5:c.*982C>A | ENSP00000455545.1:n.*982C>A | |
| ENST00000568777.5:n.6681C>A | ||
| ENST00000569116.1:n.168C>A | ||
| NM_000520.4:c.1461C>A | NP_000511.2:p.Asn487Lys | |
| NM_000520.5:c.1461C>A | NP_000511.2:p.Asn487Lys | |
| NM_001318825.1:c.1494C>A | NP_001305754.1:p.Asn498Lys | |
| NR_134869.1:n.1705C>A | ||
| NM_000520.6:c.1461C>A MANE Select | NP_000511.2:p.Asn487Lys | |
| NM_001318825.2:c.1494C>A | NP_001305754.1:p.Asn498Lys | |
| NR_134869.2:n.1246C>A | ||
| NR_134869.3:n.1246C>A |