Linked Data
ClinVar Variation Id:
375365
ClinVar RCV Id:
RCV000416424
dbSNP Id:
rs1057519468
gnomAD v2:
15-72637859-C-T
gnomAD v4:
15-72345518-C-T
PubMed:
PMID:23852624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345518C>T , CM000677.2:g.72345518C>T | GRCh38 |
| NC_000015.9:g.72637859C>T , CM000677.1:g.72637859C>T | GRCh37 |
| NC_000015.8:g.70424913C>T | NCBI36 |
| NG_009017.1:g.35662G>A | |
| NG_009017.2:g.35662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.*114G>A | ENSP00000457521.2:n.*114G>A | |
| ENST00000682061.1:c.*1800G>A | ENSP00000508316.1:n.*1800G>A | |
| ENST00000682064.1:n.1681G>A | ||
| ENST00000682177.1:c.1497G>A | ENSP00000507409.1:n.1497G>A | |
| ENST00000682235.1:n.1477G>A | ||
| ENST00000682461.1:c.1560G>A | ENSP00000507308.1:n.1560G>A | |
| ENST00000682653.1:n.2458G>A | ||
| ENST00000682657.1:c.*1291G>A | ENSP00000507753.1:n.*1291G>A | |
| ENST00000682721.1:c.*1257G>A | ENSP00000507535.1:n.*1257G>A | |
| ENST00000682843.1:c.*1095G>A | ENSP00000508173.1:n.*1095G>A | |
| ENST00000683003.1:c.*1291G>A | ENSP00000507576.1:n.*1291G>A | |
| ENST00000683133.1:c.1638G>A | ENSP00000508108.1:n.1638G>A | |
| ENST00000683243.1:c.*607G>A | ENSP00000507042.1:n.*607G>A | |
| ENST00000683463.1:c.*943G>A | ENSP00000507986.1:n.*943G>A | |
| ENST00000683548.1:n.1912G>A | ||
| ENST00000683579.1:c.*1352G>A | ENSP00000506867.1:n.*1352G>A | |
| ENST00000683587.1:n.1985G>A | ||
| ENST00000683681.1:c.*132G>A | ENSP00000508110.1:n.*132G>A | |
| ENST00000683735.1:c.*1852G>A | ENSP00000508336.1:n.*1852G>A | |
| ENST00000683853.1:c.*259G>A | ENSP00000506834.1:n.*259G>A | |
| ENST00000683860.1:c.*574G>A | ENSP00000507179.1:n.*574G>A | |
| ENST00000683884.1:c.*781G>A | ENSP00000507004.1:n.*781G>A | |
| ENST00000684041.1:c.*587G>A | ENSP00000508382.1:n.*587G>A | |
| ENST00000684125.1:c.*114G>A | ENSP00000507320.1:n.*114G>A | |
| ENST00000684203.1:n.3903G>A | ||
| ENST00000684231.1:c.*864G>A | ENSP00000507748.1:n.*864G>A | |
| ENST00000684263.1:c.*1078G>A | ENSP00000508369.1:n.*1078G>A | |
| ENST00000684305.1:c.1902G>A | ENSP00000506819.1:n.1902G>A | |
| ENST00000684415.1:c.*1005G>A | ENSP00000507227.1:n.*1005G>A | |
| ENST00000684520.1:c.*713G>A | ENSP00000506826.1:n.*713G>A | |
| ENST00000684602.1:c.*1120G>A | ENSP00000507996.1:n.*1120G>A | |
| ENST00000684667.1:c.1785G>A | ENSP00000507003.1:n.1785G>A | |
| ENST00000268097.10:c.1454G>A MANE Select | ENSP00000268097.6:p.Trp485Ter | |
| ENST00000268097.9:c.1454G>A | ENSP00000268097.5:p.Trp485Ter | |
| ENST00000379915.4:c.536G>A | ENSP00000478716.1:p.Trp179Ter | |
| ENST00000564677.5:n.246G>A | ||
| ENST00000565873.1:n.365G>A | ||
| ENST00000566304.5:c.1487G>A | ENSP00000455114.1:p.Trp496Ter | |
| ENST00000567027.5:c.1069G>A | ||
| ENST00000567159.5:c.1454G>A | ENSP00000456489.1:p.Trp485Ter | |
| ENST00000567411.5:c.*975G>A | ENSP00000455545.1:n.*975G>A | |
| ENST00000568777.5:n.6674G>A | ||
| ENST00000569116.1:n.161G>A | ||
| NM_000520.4:c.1454G>A | NP_000511.2:p.Trp485Ter | |
| NM_000520.5:c.1454G>A | NP_000511.2:p.Trp485Ter | |
| NM_001318825.1:c.1487G>A | NP_001305754.1:p.Trp496Ter | |
| NR_134869.1:n.1698G>A | ||
| NM_000520.6:c.1454G>A MANE Select | NP_000511.2:p.Trp485Ter | |
| NM_001318825.2:c.1487G>A | NP_001305754.1:p.Trp496Ter | |
| NR_134869.2:n.1239G>A | ||
| NR_134869.3:n.1239G>A |