Linked Data
ClinVar Variation Id:
1172788
ClinVar RCV Id:
RCV001526842
dbSNP Id:
rs2122531973
gnomAD v4:
20-495756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.495756T>C , CM000682.2:g.495756T>C | GRCh38 |
| NC_000020.10:g.476400T>C , CM000682.1:g.476400T>C | GRCh37 |
| NC_000020.9:g.424400T>C | NCBI36 |
| NG_011970.1:g.53083A>G | |
| NG_011970.2:g.53083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217244.9:c.473A>G MANE Select | ENSP00000217244.3:p.Lys158Arg | |
| ENST00000349736.10:c.65A>G | ENSP00000339247.6:p.Lys22Arg | |
| ENST00000400217.7:c.473A>G | ENSP00000383076.2:p.Lys158Arg | |
| ENST00000400227.8:c.473A>G | ENSP00000383086.3:p.Lys158Arg | |
| ENST00000460062.7:c.65A>G | ENSP00000477147.2:p.Lys22Arg | |
| ENST00000642689.1:c.422A>G | ENSP00000495414.1:p.Lys141Arg | |
| ENST00000643600.1:c.473A>G | ENSP00000494038.1:p.Lys158Arg | |
| ENST00000643602.1:n.492A>G | ||
| ENST00000643641.1:n.523A>G | ||
| ENST00000643660.1:c.473A>G | ENSP00000495248.1:p.Lys158Arg | |
| ENST00000643680.1:c.473A>G | ENSP00000493704.1:p.Lys158Arg | |
| ENST00000643700.1:n.1150A>G | ||
| ENST00000643968.1:c.*225A>G | ENSP00000495139.1:n.*225A>G | |
| ENST00000643980.1:n.1366A>G | ||
| ENST00000644003.1:c.65A>G | ENSP00000495387.1:p.Lys22Arg | |
| ENST00000644170.1:n.640A>G | ||
| ENST00000644177.1:c.371A>G | ENSP00000495079.1:p.Lys124Arg | |
| ENST00000644448.1:n.973A>G | ||
| ENST00000644710.1:c.422A>G | ENSP00000493791.1:p.Lys141Arg | |
| ENST00000644885.1:c.426+1965A>G | ENSP00000496146.1:n.426+1965A>G | |
| ENST00000645234.1:c.473A>G | ENSP00000494288.1:p.Lys158Arg | |
| ENST00000645249.1:c.*546A>G | ENSP00000496152.1:n.*546A>G | |
| ENST00000645260.1:c.362A>G | ENSP00000493931.1:p.Lys121Arg | |
| ENST00000645623.1:c.473A>G | ENSP00000495998.1:p.Lys158Arg | |
| ENST00000645768.1:n.1100A>G | ||
| ENST00000645840.1:c.*291A>G | ENSP00000494445.1:n.*291A>G | |
| ENST00000645910.1:c.*225A>G | ENSP00000493697.1:n.*225A>G | |
| ENST00000646305.1:c.473A>G | ENSP00000495902.1:p.Lys158Arg | |
| ENST00000646477.1:c.65A>G | ENSP00000495439.1:p.Lys22Arg | |
| ENST00000646561.1:c.473A>G | ENSP00000496569.1:p.Lys158Arg | |
| ENST00000646814.1:c.473A>G | ENSP00000495422.1:p.Lys158Arg | |
| ENST00000647026.1:c.473A>G | ENSP00000494370.1:p.Lys158Arg | |
| ENST00000647155.1:n.638A>G | ||
| ENST00000647348.1:c.473A>G | ENSP00000495912.1:p.Lys158Arg | |
| ENST00000217244.7:c.473A>G | ENSP00000217244.3:p.Lys158Arg | |
| ENST00000349736.9:c.473A>G | ENSP00000339247.5:p.Lys158Arg | |
| ENST00000400217.6:c.65A>G | ENSP00000383076.1:p.Lys22Arg | |
| ENST00000400227.7:c.473A>G | ENSP00000383086.3:p.Lys158Arg | |
| ENST00000460062.6:c.65A>G | ENSP00000477147.1:p.Lys22Arg | |
| ENST00000619188.4:c.473A>G | ENSP00000479630.1:p.Lys158Arg | |
| NM_001895.3:c.473A>G | NP_001886.1:p.Lys158Arg | |
| NM_177559.2:c.473A>G | NP_808227.1:p.Lys158Arg | |
| NM_177560.2:c.65A>G | NP_808228.1:p.Lys22Arg | |
| XM_011529175.1:c.473A>G | XP_011527477.1:p.Lys158Arg | |
| XM_011529176.1:c.65A>G | XP_011527478.1:p.Lys22Arg | |
| NM_001362770.1:c.473A>G | NP_001349699.1:p.Lys158Arg | |
| NM_001362771.1:c.473A>G | NP_001349700.1:p.Lys158Arg | |
| NM_177559.3:c.473A>G MANE Select | NP_808227.1:p.Lys158Arg | |
| NM_001362770.2:c.473A>G | NP_001349699.1:p.Lys158Arg | |
| NM_001362771.2:c.473A>G | NP_001349700.1:p.Lys158Arg | |
| NM_001895.4:c.473A>G | NP_001886.1:p.Lys158Arg | |
| NM_177560.3:c.65A>G | NP_808228.1:p.Lys22Arg |