Linked Data
ClinVar Variation Id:
375364
ClinVar RCV Id:
RCV000416475
dbSNP Id:
rs1057519467
gnomAD v4:
15-72345540-C-T
PubMed:
PMID:22723944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345540C>T , CM000677.2:g.72345540C>T | GRCh38 |
| NC_000015.9:g.72637881C>T , CM000677.1:g.72637881C>T | GRCh37 |
| NC_000015.8:g.70424935C>T | NCBI36 |
| NG_009017.1:g.35640G>A | |
| NG_009017.2:g.35640G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.*92G>A | ENSP00000457521.2:n.*92G>A | |
| ENST00000682061.1:c.*1778G>A | ENSP00000508316.1:n.*1778G>A | |
| ENST00000682064.1:n.1659G>A | ||
| ENST00000682177.1:c.1475G>A | ENSP00000507409.1:n.1475G>A | |
| ENST00000682235.1:n.1455G>A | ||
| ENST00000682461.1:c.1538G>A | ENSP00000507308.1:n.1538G>A | |
| ENST00000682653.1:n.2436G>A | ||
| ENST00000682657.1:c.*1269G>A | ENSP00000507753.1:n.*1269G>A | |
| ENST00000682721.1:c.*1235G>A | ENSP00000507535.1:n.*1235G>A | |
| ENST00000682843.1:c.*1073G>A | ENSP00000508173.1:n.*1073G>A | |
| ENST00000683003.1:c.*1269G>A | ENSP00000507576.1:n.*1269G>A | |
| ENST00000683133.1:c.1616G>A | ENSP00000508108.1:n.1616G>A | |
| ENST00000683243.1:c.*585G>A | ENSP00000507042.1:n.*585G>A | |
| ENST00000683463.1:c.*921G>A | ENSP00000507986.1:n.*921G>A | |
| ENST00000683548.1:n.1890G>A | ||
| ENST00000683579.1:c.*1330G>A | ENSP00000506867.1:n.*1330G>A | |
| ENST00000683587.1:n.1963G>A | ||
| ENST00000683681.1:c.*110G>A | ENSP00000508110.1:n.*110G>A | |
| ENST00000683735.1:c.*1830G>A | ENSP00000508336.1:n.*1830G>A | |
| ENST00000683853.1:c.*237G>A | ENSP00000506834.1:n.*237G>A | |
| ENST00000683860.1:c.*552G>A | ENSP00000507179.1:n.*552G>A | |
| ENST00000683884.1:c.*759G>A | ENSP00000507004.1:n.*759G>A | |
| ENST00000684041.1:c.*565G>A | ENSP00000508382.1:n.*565G>A | |
| ENST00000684125.1:c.*92G>A | ENSP00000507320.1:n.*92G>A | |
| ENST00000684203.1:n.3881G>A | ||
| ENST00000684231.1:c.*842G>A | ENSP00000507748.1:n.*842G>A | |
| ENST00000684263.1:c.*1056G>A | ENSP00000508369.1:n.*1056G>A | |
| ENST00000684305.1:c.1880G>A | ENSP00000506819.1:n.1880G>A | |
| ENST00000684415.1:c.*983G>A | ENSP00000507227.1:n.*983G>A | |
| ENST00000684520.1:c.*691G>A | ENSP00000506826.1:n.*691G>A | |
| ENST00000684602.1:c.*1098G>A | ENSP00000507996.1:n.*1098G>A | |
| ENST00000684667.1:c.1763G>A | ENSP00000507003.1:n.1763G>A | |
| ENST00000268097.10:c.1432G>A MANE Select | ENSP00000268097.6:p.Gly478Arg | |
| ENST00000268097.9:c.1432G>A | ENSP00000268097.5:p.Gly478Arg | |
| ENST00000379915.4:c.514G>A | ENSP00000478716.1:p.Gly172Arg | |
| ENST00000564677.5:n.224G>A | ||
| ENST00000565873.1:n.343G>A | ||
| ENST00000566304.5:c.1465G>A | ENSP00000455114.1:p.Gly489Arg | |
| ENST00000567027.5:c.1047G>A | ||
| ENST00000567159.5:c.1432G>A | ENSP00000456489.1:p.Gly478Arg | |
| ENST00000567411.5:c.*953G>A | ENSP00000455545.1:n.*953G>A | |
| ENST00000568777.5:n.6652G>A | ||
| ENST00000569116.1:n.139G>A | ||
| NM_000520.4:c.1432G>A | NP_000511.2:p.Gly478Arg | |
| NM_000520.5:c.1432G>A | NP_000511.2:p.Gly478Arg | |
| NM_001318825.1:c.1465G>A | NP_001305754.1:p.Gly489Arg | |
| NR_134869.1:n.1676G>A | ||
| NM_000520.6:c.1432G>A MANE Select | NP_000511.2:p.Gly478Arg | |
| NM_001318825.2:c.1465G>A | NP_001305754.1:p.Gly489Arg | |
| NR_134869.2:n.1217G>A | ||
| NR_134869.3:n.1217G>A |