Linked Data
ClinVar Variation Id:
3906
dbSNP Id:
rs28942071
ExAC:
15:72637803 G / A
gnomAD v2:
15-72637803-G-A
gnomAD v3:
15-72345462-G-A
gnomAD v4:
15-72345462-G-A
COSMIC:
COSM1937327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345462G>A , CM000677.2:g.72345462G>A | GRCh38 |
| NC_000015.9:g.72637803G>A , CM000677.1:g.72637803G>A | GRCh37 |
| NC_000015.8:g.70424857G>A | NCBI36 |
| NG_009017.1:g.35718C>T | |
| NG_009017.2:g.35718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*170C>T | ENSP00000457521.2:n.*170C>T | |
| ENST00000682061.1:c.*1856C>T | ENSP00000508316.1:n.*1856C>T | |
| ENST00000682064.1:n.1737C>T | ||
| ENST00000682177.1:c.1553C>T | ENSP00000507409.1:n.1553C>T | |
| ENST00000682235.1:n.1533C>T | ||
| ENST00000682461.1:c.1616C>T | ENSP00000507308.1:n.1616C>T | |
| ENST00000682653.1:n.2514C>T | ||
| ENST00000682657.1:c.*1347C>T | ENSP00000507753.1:n.*1347C>T | |
| ENST00000682721.1:c.*1313C>T | ENSP00000507535.1:n.*1313C>T | |
| ENST00000682843.1:c.*1151C>T | ENSP00000508173.1:n.*1151C>T | |
| ENST00000683003.1:c.*1347C>T | ENSP00000507576.1:n.*1347C>T | |
| ENST00000683133.1:c.1694C>T | ENSP00000508108.1:n.1694C>T | |
| ENST00000683243.1:c.*663C>T | ENSP00000507042.1:n.*663C>T | |
| ENST00000683463.1:c.*999C>T | ENSP00000507986.1:n.*999C>T | |
| ENST00000683548.1:n.1968C>T | ||
| ENST00000683579.1:c.*1408C>T | ENSP00000506867.1:n.*1408C>T | |
| ENST00000683587.1:n.2041C>T | ||
| ENST00000683681.1:c.*188C>T | ENSP00000508110.1:n.*188C>T | |
| ENST00000683735.1:c.*1908C>T | ENSP00000508336.1:n.*1908C>T | |
| ENST00000683853.1:c.*315C>T | ENSP00000506834.1:n.*315C>T | |
| ENST00000683860.1:c.*630C>T | ENSP00000507179.1:n.*630C>T | |
| ENST00000683884.1:c.*837C>T | ENSP00000507004.1:n.*837C>T | |
| ENST00000684125.1:c.*170C>T | ENSP00000507320.1:n.*170C>T | |
| ENST00000684203.1:n.3959C>T | ||
| ENST00000684231.1:c.*920C>T | ENSP00000507748.1:n.*920C>T | |
| ENST00000684263.1:c.*1134C>T | ENSP00000508369.1:n.*1134C>T | |
| ENST00000684305.1:c.1958C>T | ENSP00000506819.1:n.1958C>T | |
| ENST00000684415.1:c.*1061C>T | ENSP00000507227.1:n.*1061C>T | |
| ENST00000684520.1:c.*769C>T | ENSP00000506826.1:n.*769C>T | |
| ENST00000684602.1:c.*1176C>T | ENSP00000507996.1:n.*1176C>T | |
| ENST00000684667.1:c.1841C>T | ENSP00000507003.1:n.1841C>T | |
| ENST00000268097.10:c.1510C>T MANE Select | ENSP00000268097.6:p.Arg504Cys | |
| ENST00000268097.9:c.1510C>T | ENSP00000268097.5:p.Arg504Cys | |
| ENST00000379915.4:c.592C>T | ENSP00000478716.1:p.Arg198Cys | |
| ENST00000564677.5:n.302C>T | ||
| ENST00000565873.1:n.421C>T | ||
| ENST00000566304.5:c.1543C>T | ENSP00000455114.1:p.Arg515Cys | |
| ENST00000567027.5:c.1125C>T | ||
| ENST00000567159.5:c.1510C>T | ENSP00000456489.1:p.Arg504Cys | |
| ENST00000567411.5:c.*1031C>T | ENSP00000455545.1:n.*1031C>T | |
| ENST00000568777.5:n.6730C>T | ||
| ENST00000569116.1:n.217C>T | ||
| NM_000520.4:c.1510C>T | NP_000511.2:p.Arg504Cys | |
| NM_000520.5:c.1510C>T | NP_000511.2:p.Arg504Cys | |
| NM_001318825.1:c.1543C>T | NP_001305754.1:p.Arg515Cys | |
| NR_134869.1:n.1754C>T | ||
| NM_000520.6:c.1510C>T MANE Select | NP_000511.2:p.Arg504Cys | |
| NM_001318825.2:c.1543C>T | NP_001305754.1:p.Arg515Cys | |
| NR_134869.2:n.1295C>T | ||
| NR_134869.3:n.1295C>T |