Linked Data
dbSNP Id:
rs1245044536
gnomAD v2:
15-72637873-A-C
gnomAD v3:
15-72345532-A-C
gnomAD v4:
15-72345532-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345532A>C , CM000677.2:g.72345532A>C | GRCh38 |
| NC_000015.9:g.72637873A>C , CM000677.1:g.72637873A>C | GRCh37 |
| NC_000015.8:g.70424927A>C | NCBI36 |
| NG_009017.1:g.35648T>G | |
| NG_009017.2:g.35648T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*100T>G | ENSP00000457521.2:n.*100T>G | |
| ENST00000682061.1:c.*1786T>G | ENSP00000508316.1:n.*1786T>G | |
| ENST00000682064.1:n.1667T>G | ||
| ENST00000682177.1:c.1483T>G | ENSP00000507409.1:n.1483T>G | |
| ENST00000682235.1:n.1463T>G | ||
| ENST00000682461.1:c.1546T>G | ENSP00000507308.1:n.1546T>G | |
| ENST00000682653.1:n.2444T>G | ||
| ENST00000682657.1:c.*1277T>G | ENSP00000507753.1:n.*1277T>G | |
| ENST00000682721.1:c.*1243T>G | ENSP00000507535.1:n.*1243T>G | |
| ENST00000682843.1:c.*1081T>G | ENSP00000508173.1:n.*1081T>G | |
| ENST00000683003.1:c.*1277T>G | ENSP00000507576.1:n.*1277T>G | |
| ENST00000683133.1:c.1624T>G | ENSP00000508108.1:n.1624T>G | |
| ENST00000683243.1:c.*593T>G | ENSP00000507042.1:n.*593T>G | |
| ENST00000683463.1:c.*929T>G | ENSP00000507986.1:n.*929T>G | |
| ENST00000683548.1:n.1898T>G | ||
| ENST00000683579.1:c.*1338T>G | ENSP00000506867.1:n.*1338T>G | |
| ENST00000683587.1:n.1971T>G | ||
| ENST00000683681.1:c.*118T>G | ENSP00000508110.1:n.*118T>G | |
| ENST00000683735.1:c.*1838T>G | ENSP00000508336.1:n.*1838T>G | |
| ENST00000683853.1:c.*245T>G | ENSP00000506834.1:n.*245T>G | |
| ENST00000683860.1:c.*560T>G | ENSP00000507179.1:n.*560T>G | |
| ENST00000683884.1:c.*767T>G | ENSP00000507004.1:n.*767T>G | |
| ENST00000684041.1:c.*573T>G | ENSP00000508382.1:n.*573T>G | |
| ENST00000684125.1:c.*100T>G | ENSP00000507320.1:n.*100T>G | |
| ENST00000684203.1:n.3889T>G | ||
| ENST00000684231.1:c.*850T>G | ENSP00000507748.1:n.*850T>G | |
| ENST00000684263.1:c.*1064T>G | ENSP00000508369.1:n.*1064T>G | |
| ENST00000684305.1:c.1888T>G | ENSP00000506819.1:n.1888T>G | |
| ENST00000684415.1:c.*991T>G | ENSP00000507227.1:n.*991T>G | |
| ENST00000684520.1:c.*699T>G | ENSP00000506826.1:n.*699T>G | |
| ENST00000684602.1:c.*1106T>G | ENSP00000507996.1:n.*1106T>G | |
| ENST00000684667.1:c.1771T>G | ENSP00000507003.1:n.1771T>G | |
| ENST00000268097.10:c.1440T>G MANE Select | ENSP00000268097.6:p.Val480= | |
| ENST00000268097.9:c.1440T>G | ENSP00000268097.5:p.Val480= | |
| ENST00000379915.4:c.522T>G | ENSP00000478716.1:p.Val174= | |
| ENST00000564677.5:n.232T>G | ||
| ENST00000565873.1:n.351T>G | ||
| ENST00000566304.5:c.1473T>G | ENSP00000455114.1:p.Val491= | |
| ENST00000567027.5:c.1055T>G | ||
| ENST00000567159.5:c.1440T>G | ENSP00000456489.1:p.Val480= | |
| ENST00000567411.5:c.*961T>G | ENSP00000455545.1:n.*961T>G | |
| ENST00000568777.5:n.6660T>G | ||
| ENST00000569116.1:n.147T>G | ||
| NM_000520.4:c.1440T>G | NP_000511.2:p.Val480= | |
| NM_000520.5:c.1440T>G | NP_000511.2:p.Val480= | |
| NM_001318825.1:c.1473T>G | NP_001305754.1:p.Val491= | |
| NR_134869.1:n.1684T>G | ||
| NM_000520.6:c.1440T>G MANE Select | NP_000511.2:p.Val480= | |
| NM_001318825.2:c.1473T>G | NP_001305754.1:p.Val491= | |
| NR_134869.2:n.1225T>G | ||
| NR_134869.3:n.1225T>G |