Linked Data
ClinVar Variation Id:
522316
dbSNP Id:
rs150489856
ExAC:
10:90771765 A / G
gnomAD v2:
10-90771765-A-G
gnomAD v3:
10-89012008-A-G
gnomAD v4:
10-89012008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89012008A>G , CM000672.2:g.89012008A>G | GRCh38 |
| NC_000010.10:g.90771765A>G , CM000672.1:g.90771765A>G | GRCh37 |
| NC_000010.9:g.90761745A>G | NCBI36 |
| NG_009089.2:g.26478A>G , LRG_134:g.26478A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.887A>G | ||
| ENST00000355740.8:c.568+1193A>G | ENSP00000347979.3:n.568+1193A>G | |
| ENST00000357339.7:c.515A>G | ENSP00000349896.2:p.Lys172Arg | |
| ENST00000371857.8:n.2123A>G | ||
| ENST00000460510.6:c.-140A>G | ENSP00000512812.1:n.-140A>G | |
| ENST00000466081.6:n.1973A>G | ||
| ENST00000477270.6:c.623A>G | ENSP00000512813.1:p.Lys208Arg | |
| ENST00000479522.6:c.*7A>G | ENSP00000424113.1:n.*7A>G | |
| ENST00000484444.6:c.*19A>G | ENSP00000420975.1:n.*19A>G | |
| ENST00000488877.6:c.469A>G | ENSP00000425159.1:n.469A>G | |
| ENST00000492756.7:c.*7A>G | ENSP00000422453.1:n.*7A>G | |
| ENST00000494799.6:c.-140A>G | ENSP00000512834.1:n.-140A>G | |
| ENST00000562983.3:c.-140A>G | ENSP00000512845.1:n.-140A>G | |
| ENST00000612663.6:c.578A>G | ENSP00000477997.3:p.Lys193Arg | |
| ENST00000640140.2:n.723A>G | ||
| ENST00000640681.2:n.682A>G | ||
| ENST00000696723.1:n.4211A>G | ||
| ENST00000696741.1:n.2216A>G | ||
| ENST00000696742.1:n.1943A>G | ||
| ENST00000696743.1:n.2085A>G | ||
| ENST00000696744.1:n.617A>G | ||
| ENST00000696767.1:n.912A>G | ||
| ENST00000696768.1:c.506-1335A>G | ENSP00000512859.1:n.506-1335A>G | |
| ENST00000696769.1:n.2267A>G | ||
| ENST00000696770.1:n.4688A>G | ||
| ENST00000696771.1:c.-140A>G | ENSP00000512860.1:n.-140A>G | |
| ENST00000696772.1:n.1927A>G | ||
| ENST00000696773.1:n.1920A>G | ||
| ENST00000696774.1:n.3676A>G | ||
| ENST00000696776.1:c.671A>G | ENSP00000512861.1:p.Lys224Arg | |
| ENST00000696777.1:n.1986A>G | ||
| ENST00000696778.1:n.760A>G | ||
| ENST00000696779.1:c.259-1335A>G | ENSP00000512862.1:n.259-1335A>G | |
| ENST00000696780.1:c.608A>G | ENSP00000512863.1:p.Lys203Arg | |
| ENST00000696781.1:c.397-1335A>G | ENSP00000512864.1:n.397-1335A>G | |
| ENST00000696782.1:c.515A>G | ENSP00000512865.1:p.Lys172Arg | |
| ENST00000696783.1:n.2446A>G | ||
| ENST00000696992.1:n.1695A>G | ||
| ENST00000696995.1:n.2095A>G | ||
| ENST00000696996.1:n.759A>G | ||
| ENST00000696997.1:c.*208A>G | ENSP00000513028.1:n.*208A>G | |
| ENST00000696998.1:n.1832A>G | ||
| ENST00000696999.1:c.-140A>G | ENSP00000513029.1:n.-140A>G | |
| ENST00000697035.1:c.578A>G | ENSP00000513059.1:p.Lys193Arg | |
| ENST00000697036.1:c.*19A>G | ENSP00000513060.1:n.*19A>G | |
| ENST00000697037.1:n.613A>G | ||
| ENST00000697093.1:n.802A>G | ||
| ENST00000697094.1:n.1900A>G | ||
| ENST00000697095.1:c.*1779A>G | ENSP00000513104.1:n.*1779A>G | |
| ENST00000697096.1:n.1711A>G | ||
| ENST00000697097.1:c.-140A>G | ENSP00000513105.1:n.-140A>G | |
| ENST00000562983.2:n.764A>G | ||
| ENST00000690268.1:c.659A>G | ENSP00000509810.1:p.Lys220Arg | |
| ENST00000355740.7:c.568+1193A>G | ENSP00000347979.3:n.568+1193A>G | |
| ENST00000612663.5:c.578A>G | ENSP00000477997.3:p.Lys193Arg | |
| ENST00000640140.1:n.750A>G | ||
| ENST00000640681.1:n.699A>G | ||
| ENST00000652046.1:c.578A>G MANE Select | ENSP00000498466.1:p.Lys193Arg | |
| ENST00000313771.9:n.887A>G | ||
| ENST00000352159.8:c.578A>G | ENSP00000345601.4:p.Lys193Arg | |
| ENST00000355279.2:c.578A>G | ENSP00000347426.2:p.Lys193Arg | |
| ENST00000355740.6:c.578A>G | ENSP00000347979.2:p.Lys193Arg | |
| ENST00000357339.6:c.515A>G | ENSP00000349896.2:p.Lys172Arg | |
| ENST00000479522.5:c.*7A>G | ENSP00000424113.1:n.*7A>G | |
| ENST00000484444.5:c.*19A>G | ENSP00000420975.1:n.*19A>G | |
| ENST00000487314.1:n.727A>G | ||
| ENST00000488877.5:c.*19A>G | ENSP00000425159.1:n.*19A>G | |
| ENST00000492756.5:c.406A>G | ENSP00000422453.1:n.406A>G | |
| ENST00000494410.5:c.*9+1193A>G | ENSP00000423755.1:n.*9+1193A>G | |
| ENST00000494799.5:n.485A>G | ||
| ENST00000612663.4:c.578A>G | ENSP00000477997.2:p.Lys193Arg | |
| ENST00000615406.4:c.578A>G | ENSP00000484575.1:p.Lys193Arg | |
| ENST00000626542.2:c.578A>G | ENSP00000485876.1:p.Lys193Arg | |
| NM_000043.4:c.578A>G , LRG_134t1:c.578A>G | NP_000034.1:p.Lys193Arg | |
| NM_152871.2:c.515A>G | NP_690610.1:p.Lys172Arg | |
| NM_152872.2:c.578A>G | NP_690611.1:p.Lys193Arg | |
| NR_028033.2:n.752A>G | ||
| NR_028034.2:n.614A>G | ||
| NR_028035.2:n.677A>G | ||
| NR_028036.2:n.815A>G | ||
| XM_006717819.2:c.659A>G | XP_006717882.1:p.Lys220Arg | |
| XM_011539764.1:c.740A>G | XP_011538066.1:p.Lys247Arg | |
| XM_011539765.1:c.677A>G | XP_011538067.1:p.Lys226Arg | |
| XM_011539766.1:c.659A>G | XP_011538068.1:p.Lys220Arg | |
| XM_011539767.1:c.623A>G | XP_011538069.1:p.Lys208Arg | |
| XR_945732.1:n.646A>G | ||
| XR_945733.1:n.583A>G | ||
| NM_000043.5:c.578A>G | NP_000034.1:p.Lys193Arg | |
| NM_001320619.1:c.568+1193A>G | NP_001307548.1:n.568+1193A>G | |
| NM_152871.3:c.515A>G | NP_690610.1:p.Lys172Arg | |
| NM_152872.3:c.578A>G | NP_690611.1:p.Lys193Arg | |
| NR_028033.3:n.724A>G | ||
| NR_028034.3:n.586A>G | ||
| NR_028035.3:n.649A>G | ||
| NR_028036.3:n.787A>G | ||
| NR_135313.1:n.777+1193A>G | ||
| NR_135314.1:n.887A>G | ||
| NR_135315.1:n.640A>G | ||
| XM_006717819.3:c.659A>G | XP_006717882.1:p.Lys220Arg | |
| XM_011539764.2:c.740A>G | XP_011538066.1:p.Lys247Arg | |
| XM_011539765.2:c.677A>G | XP_011538067.1:p.Lys226Arg | |
| XM_011539766.2:c.659A>G | XP_011538068.1:p.Lys220Arg | |
| XM_011539767.3:c.623A>G | XP_011538069.1:p.Lys208Arg | |
| XR_945732.3:n.646A>G | ||
| XR_945733.2:n.583A>G | ||
| NM_000043.6:c.578A>G MANE Select | NP_000034.1:p.Lys193Arg | |
| NM_001320619.2:c.568+1193A>G | NP_001307548.1:n.568+1193A>G | |
| NM_152871.4:c.515A>G | NP_690610.1:p.Lys172Arg | |
| NM_152872.4:c.578A>G | NP_690611.1:p.Lys193Arg | |
| NR_028033.4:n.485A>G | ||
| NR_028034.4:n.347A>G | ||
| NR_028035.4:n.410A>G | ||
| NR_028036.4:n.548A>G | ||
| NR_135313.2:n.538+1193A>G | ||
| NR_135314.2:n.744A>G | ||
| NR_135315.2:n.497A>G |