Linked Data
ClinVar Variation Id:
695932
dbSNP Id:
rs34085965
ExAC:
15:72638659 A / G
gnomAD v2:
15-72638659-A-G
gnomAD v3:
15-72346318-A-G
gnomAD v4:
15-72346318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346318A>G , CM000677.2:g.72346318A>G | GRCh38 |
| NC_000015.9:g.72638659A>G , CM000677.1:g.72638659A>G | GRCh37 |
| NC_000015.8:g.70425713A>G | NCBI36 |
| NG_009017.1:g.34862T>C | |
| NG_009017.2:g.34862T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1081T>C | ENSP00000457521.2:p.Ter361Arg | |
| ENST00000682061.1:c.*1000T>C | ENSP00000508316.1:n.*1000T>C | |
| ENST00000682064.1:n.881T>C | ||
| ENST00000682177.1:c.1381T>C | ENSP00000507409.1:n.1381T>C | |
| ENST00000682235.1:n.677T>C | ||
| ENST00000682461.1:c.1444T>C | ENSP00000507308.1:n.1444T>C | |
| ENST00000682653.1:n.1658T>C | ||
| ENST00000682657.1:c.*491T>C | ENSP00000507753.1:n.*491T>C | |
| ENST00000682721.1:c.*1141T>C | ENSP00000507535.1:n.*1141T>C | |
| ENST00000682843.1:c.*979T>C | ENSP00000508173.1:n.*979T>C | |
| ENST00000683003.1:c.*491T>C | ENSP00000507576.1:n.*491T>C | |
| ENST00000683133.1:c.1522T>C | ENSP00000508108.1:n.1522T>C | |
| ENST00000683243.1:c.*491T>C | ENSP00000507042.1:n.*491T>C | |
| ENST00000683463.1:c.*143T>C | ENSP00000507986.1:n.*143T>C | |
| ENST00000683548.1:n.1112T>C | ||
| ENST00000683579.1:c.*1236T>C | ENSP00000506867.1:n.*1236T>C | |
| ENST00000683587.1:n.1185T>C | ||
| ENST00000683681.1:c.1338T>C | ENSP00000508110.1:p.Pro446= | |
| ENST00000683735.1:c.*1052T>C | ENSP00000508336.1:n.*1052T>C | |
| ENST00000683853.1:c.*143T>C | ENSP00000506834.1:n.*143T>C | |
| ENST00000683860.1:c.1338T>C | ENSP00000507179.1:p.Pro446= | |
| ENST00000683884.1:c.1154T>C | ENSP00000507004.1:p.Leu385Pro | |
| ENST00000684041.1:c.1338T>C | ENSP00000508382.1:p.Pro446= | |
| ENST00000684125.1:c.1081T>C | ENSP00000507320.1:p.Ter361Arg | |
| ENST00000684203.1:n.3103T>C | ||
| ENST00000684231.1:c.*748T>C | ENSP00000507748.1:n.*748T>C | |
| ENST00000684263.1:c.*278T>C | ENSP00000508369.1:n.*278T>C | |
| ENST00000684305.1:c.1786T>C | ENSP00000506819.1:n.1786T>C | |
| ENST00000684415.1:c.*205T>C | ENSP00000507227.1:n.*205T>C | |
| ENST00000684520.1:c.1338T>C | ENSP00000506826.1:p.Pro446= | |
| ENST00000684602.1:c.*1004T>C | ENSP00000507996.1:n.*1004T>C | |
| ENST00000684667.1:c.1669T>C | ENSP00000507003.1:n.1669T>C | |
| ENST00000268097.10:c.1338T>C MANE Select | ENSP00000268097.6:p.Pro446= | |
| ENST00000268097.9:c.1338T>C | ENSP00000268097.5:p.Pro446= | |
| ENST00000379915.4:c.420T>C | ENSP00000478716.1:p.Pro140= | |
| ENST00000563762.5:c.833T>C | ENSP00000456346.1:n.833T>C | |
| ENST00000566304.5:c.1371T>C | ENSP00000455114.1:p.Pro457= | |
| ENST00000566672.5:c.*748T>C | ENSP00000457037.1:n.*748T>C | |
| ENST00000567027.5:c.953T>C | ||
| ENST00000567159.5:c.1338T>C | ENSP00000456489.1:p.Pro446= | |
| ENST00000567411.5:c.*859T>C | ENSP00000455545.1:n.*859T>C | |
| ENST00000568777.5:n.6558T>C | ||
| ENST00000569410.5:c.*143T>C | ENSP00000457125.1:n.*143T>C | |
| NM_000520.4:c.1338T>C | NP_000511.2:p.Pro446= | |
| NM_000520.5:c.1338T>C | NP_000511.2:p.Pro446= | |
| NM_001318825.1:c.1371T>C | NP_001305754.1:p.Pro457= | |
| NR_134869.1:n.1582T>C | ||
| NM_000520.6:c.1338T>C MANE Select | NP_000511.2:p.Pro446= | |
| NM_001318825.2:c.1371T>C | NP_001305754.1:p.Pro457= | |
| NR_134869.2:n.1123T>C | ||
| NR_134869.3:n.1123T>C |