Linked Data
ClinVar Variation Id:
218335
ClinVar RCV Id:
RCV000203235
dbSNP Id:
rs748190164
PubMed:
PMID:22723944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72356531C>T , CM000677.2:g.72356531C>T | GRCh38 |
| NC_000015.9:g.72648872C>T , CM000677.1:g.72648872C>T | GRCh37 |
| NC_000015.8:g.70435926C>T | NCBI36 |
| NG_009017.1:g.24649G>A | |
| NG_009017.2:g.24649G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563908.2:n.353G>A | ||
| ENST00000567027.6:c.340G>A | ENSP00000457521.2:p.Glu114Lys | |
| ENST00000568260.2:c.340G>A | ENSP00000458128.2:p.Glu114Lys | |
| ENST00000682061.1:c.340G>A | ENSP00000508316.1:p.Glu114Lys | |
| ENST00000682177.1:c.340G>A | ENSP00000507409.1:p.Glu114Lys | |
| ENST00000682461.1:c.604G>A | ENSP00000507308.1:n.604G>A | |
| ENST00000682653.1:n.371G>A | ||
| ENST00000682657.1:c.254-5297G>A | ENSP00000507753.1:n.254-5297G>A | |
| ENST00000682721.1:c.*143G>A | ENSP00000507535.1:n.*143G>A | |
| ENST00000682843.1:c.*238G>A | ENSP00000508173.1:n.*238G>A | |
| ENST00000683003.1:c.340G>A | ENSP00000507576.1:p.Glu114Lys | |
| ENST00000683133.1:c.524G>A | ENSP00000508108.1:n.524G>A | |
| ENST00000683228.1:n.371G>A | ||
| ENST00000683243.1:c.340G>A | ENSP00000507042.1:p.Glu114Lys | |
| ENST00000683463.1:c.340G>A | ENSP00000507986.1:p.Glu114Lys | |
| ENST00000683548.1:n.371G>A | ||
| ENST00000683579.1:c.*238G>A | ENSP00000506867.1:n.*238G>A | |
| ENST00000683587.1:n.371G>A | ||
| ENST00000683681.1:c.340G>A | ENSP00000508110.1:p.Glu114Lys | |
| ENST00000683735.1:c.*238G>A | ENSP00000508336.1:n.*238G>A | |
| ENST00000683853.1:c.340G>A | ENSP00000506834.1:p.Glu114Lys | |
| ENST00000683860.1:c.340G>A | ENSP00000507179.1:p.Glu114Lys | |
| ENST00000683884.1:c.340G>A | ENSP00000507004.1:p.Glu114Lys | |
| ENST00000684041.1:c.340G>A | ENSP00000508382.1:p.Glu114Lys | |
| ENST00000684125.1:c.340G>A | ENSP00000507320.1:p.Glu114Lys | |
| ENST00000684203.1:n.357G>A | ||
| ENST00000684231.1:c.340G>A | ENSP00000507748.1:p.Glu114Lys | |
| ENST00000684263.1:c.340G>A | ENSP00000508369.1:p.Glu114Lys | |
| ENST00000684305.1:c.788G>A | ENSP00000506819.1:n.788G>A | |
| ENST00000684415.1:c.340G>A | ENSP00000507227.1:p.Glu114Lys | |
| ENST00000684520.1:c.340G>A | ENSP00000506826.1:p.Glu114Lys | |
| ENST00000684602.1:c.*164G>A | ENSP00000507996.1:n.*164G>A | |
| ENST00000684667.1:c.604G>A | ENSP00000507003.1:n.604G>A | |
| ENST00000268097.10:c.340G>A MANE Select | ENSP00000268097.6:p.Glu114Lys | |
| ENST00000268097.9:c.340G>A | ENSP00000268097.5:p.Glu114Lys | |
| ENST00000379915.4:c.340G>A | ENSP00000478716.1:p.Glu114Lys | |
| ENST00000563762.5:c.431G>A | ENSP00000456346.1:n.431G>A | |
| ENST00000563908.1:n.337G>A | ||
| ENST00000566304.5:c.373G>A | ENSP00000455114.1:p.Glu125Lys | |
| ENST00000566672.5:c.340G>A | ENSP00000457037.1:p.Glu114Lys | |
| ENST00000567027.5:c.212G>A | ||
| ENST00000567159.5:c.340G>A | ENSP00000456489.1:p.Glu114Lys | |
| ENST00000567411.5:c.340G>A | ENSP00000455545.1:p.Glu114Lys | |
| ENST00000568260.1:c.321G>A | ||
| ENST00000568777.5:n.3923G>A | ||
| ENST00000569410.5:c.340G>A | ENSP00000457125.1:p.Glu114Lys | |
| ENST00000569509.5:n.345G>A | ||
| NM_000520.4:c.340G>A | NP_000511.2:p.Glu114Lys | |
| NM_000520.5:c.340G>A | NP_000511.2:p.Glu114Lys | |
| NM_001318825.1:c.373G>A | NP_001305754.1:p.Glu125Lys | |
| NR_134869.1:n.841G>A | ||
| NM_000520.6:c.340G>A MANE Select | NP_000511.2:p.Glu114Lys | |
| NM_001318825.2:c.373G>A | NP_001305754.1:p.Glu125Lys | |
| NR_134869.2:n.382G>A | ||
| NR_134869.3:n.382G>A |