Linked Data
ClinVar Variation Id:
802620
dbSNP Id:
rs778993919
gnomAD v4:
10-89014190-C-T
COSMIC:
COSM5703781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014190C>T , CM000672.2:g.89014190C>T | GRCh38 |
| NC_000010.10:g.90773947C>T , CM000672.1:g.90773947C>T | GRCh37 |
| NC_000010.9:g.90763927C>T | NCBI36 |
| NG_009089.2:g.28660C>T , LRG_134:g.28660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1057C>T | ||
| ENST00000355740.8:c.*71C>T | ENSP00000347979.3:n.*71C>T | |
| ENST00000357339.7:c.685C>T | ENSP00000349896.2:p.Arg229Ter | |
| ENST00000371857.8:n.2293C>T | ||
| ENST00000460510.6:c.31C>T | ENSP00000512812.1:p.Arg11Ter | |
| ENST00000466081.6:n.2397C>T | ||
| ENST00000477270.6:c.793C>T | ENSP00000512813.1:p.Arg265Ter | |
| ENST00000479522.6:c.*177C>T | ENSP00000424113.1:n.*177C>T | |
| ENST00000484444.6:c.*189C>T | ENSP00000420975.1:n.*189C>T | |
| ENST00000488877.6:c.639C>T | ENSP00000425159.1:n.639C>T | |
| ENST00000492756.7:c.*177C>T | ENSP00000422453.1:n.*177C>T | |
| ENST00000494799.6:c.31C>T | ENSP00000512834.1:p.Arg11Ter | |
| ENST00000562983.3:c.31C>T | ENSP00000512845.1:p.Arg11Ter | |
| ENST00000612663.6:c.*150C>T | ENSP00000477997.3:n.*150C>T | |
| ENST00000640140.2:n.893C>T | ||
| ENST00000640250.2:n.247C>T | ||
| ENST00000640681.2:n.852C>T | ||
| ENST00000696723.1:n.4381C>T | ||
| ENST00000696741.1:n.2386C>T | ||
| ENST00000696742.1:n.2113C>T | ||
| ENST00000696743.1:n.3516C>T | ||
| ENST00000696744.1:n.787C>T | ||
| ENST00000696767.1:n.1082C>T | ||
| ENST00000696768.1:c.*71C>T | ENSP00000512859.1:n.*71C>T | |
| ENST00000696769.1:n.2437C>T | ||
| ENST00000696771.1:c.31C>T | ENSP00000512860.1:p.Arg11Ter | |
| ENST00000696772.1:n.2351C>T | ||
| ENST00000696773.1:n.2090C>T | ||
| ENST00000696774.1:n.5858C>T | ||
| ENST00000696776.1:c.841C>T | ENSP00000512861.1:p.Arg281Ter | |
| ENST00000696777.1:n.2156C>T | ||
| ENST00000696778.1:n.1184C>T | ||
| ENST00000696779.1:c.355C>T | ENSP00000512862.1:p.Arg119Ter | |
| ENST00000696780.1:c.778C>T | ENSP00000512863.1:p.Arg260Ter | |
| ENST00000696781.1:c.493C>T | ENSP00000512864.1:p.Arg165Ter | |
| ENST00000696782.1:c.*150C>T | ENSP00000512865.1:n.*150C>T | |
| ENST00000696783.1:n.2616C>T | ||
| ENST00000696992.1:n.1865C>T | ||
| ENST00000696995.1:n.4277C>T | ||
| ENST00000696996.1:n.2190C>T | ||
| ENST00000696997.1:c.*378C>T | ENSP00000513028.1:n.*378C>T | |
| ENST00000696998.1:n.2002C>T | ||
| ENST00000696999.1:c.31C>T | ENSP00000513029.1:p.Arg11Ter | |
| ENST00000697035.1:c.*81C>T | ENSP00000513059.1:n.*81C>T | |
| ENST00000697036.1:c.*164C>T | ENSP00000513060.1:n.*164C>T | |
| ENST00000697037.1:n.783C>T | ||
| ENST00000697093.1:n.2984C>T | ||
| ENST00000697094.1:n.3331C>T | ||
| ENST00000697095.1:c.*1949C>T | ENSP00000513104.1:n.*1949C>T | |
| ENST00000697096.1:n.1881C>T | ||
| ENST00000697097.1:c.31C>T | ENSP00000513105.1:p.Arg11Ter | |
| ENST00000562983.2:n.934C>T | ||
| ENST00000690268.1:c.829C>T | ENSP00000509810.1:p.Arg277Ter | |
| ENST00000355740.7:c.*74C>T | ENSP00000347979.3:n.*74C>T | |
| ENST00000612663.5:c.*150C>T | ENSP00000477997.3:n.*150C>T | |
| ENST00000640140.1:n.920C>T | ||
| ENST00000640250.1:n.247C>T | ||
| ENST00000640681.1:n.869C>T | ||
| ENST00000652046.1:c.748C>T MANE Select | ENSP00000498466.1:p.Arg250Ter | |
| ENST00000352159.8:c.*65C>T | ENSP00000345601.4:n.*65C>T | |
| ENST00000355279.2:c.723C>T | ENSP00000347426.2:n.723C>T | |
| ENST00000355740.6:c.748C>T | ENSP00000347979.2:p.Arg250Ter | |
| ENST00000357339.6:c.685C>T | ENSP00000349896.2:p.Arg229Ter | |
| ENST00000479522.5:c.*177C>T | ENSP00000424113.1:n.*177C>T | |
| ENST00000484444.5:c.*189C>T | ENSP00000420975.1:n.*189C>T | |
| ENST00000488877.5:c.*189C>T | ENSP00000425159.1:n.*189C>T | |
| ENST00000492756.5:c.576C>T | ENSP00000422453.1:n.576C>T | |
| ENST00000494410.5:c.*106C>T | ENSP00000423755.1:n.*106C>T | |
| ENST00000494799.5:n.655C>T | ||
| ENST00000612663.4:c.*95C>T | ENSP00000477997.2:n.*95C>T | |
| ENST00000615406.4:c.748C>T | ENSP00000484575.1:p.Arg250Ter | |
| NM_000043.4:c.748C>T , LRG_134t1:c.748C>T | NP_000034.1:p.Arg250Ter | |
| NM_152871.2:c.685C>T | NP_690610.1:p.Arg229Ter | |
| NM_152872.2:c.*60C>T | NP_690611.1:n.*60C>T | |
| NR_028033.2:n.922C>T | ||
| NR_028034.2:n.784C>T | ||
| NR_028035.2:n.847C>T | ||
| NR_028036.2:n.985C>T | ||
| XM_006717819.2:c.829C>T | XP_006717882.1:p.Arg277Ter | |
| XM_011539764.1:c.910C>T | XP_011538066.1:p.Arg304Ter | |
| XM_011539765.1:c.847C>T | XP_011538067.1:p.Arg283Ter | |
| XM_011539766.1:c.829C>T | XP_011538068.1:p.Arg277Ter | |
| XM_011539767.1:c.793C>T | XP_011538069.1:p.Arg265Ter | |
| XR_945732.1:n.816C>T | ||
| XR_945733.1:n.753C>T | ||
| NM_000043.5:c.748C>T | NP_000034.1:p.Arg250Ter | |
| NM_001320619.1:c.*71C>T | NP_001307548.1:n.*71C>T | |
| NM_152871.3:c.685C>T | NP_690610.1:p.Arg229Ter | |
| NM_152872.3:c.*60C>T | NP_690611.1:n.*60C>T | |
| NR_028033.3:n.894C>T | ||
| NR_028034.3:n.756C>T | ||
| NR_028035.3:n.819C>T | ||
| NR_028036.3:n.957C>T | ||
| NR_135313.1:n.874C>T | ||
| NR_135314.1:n.1057C>T | ||
| NR_135315.1:n.810C>T | ||
| XM_006717819.3:c.829C>T | XP_006717882.1:p.Arg277Ter | |
| XM_011539764.2:c.910C>T | XP_011538066.1:p.Arg304Ter | |
| XM_011539765.2:c.847C>T | XP_011538067.1:p.Arg283Ter | |
| XM_011539766.2:c.829C>T | XP_011538068.1:p.Arg277Ter | |
| XM_011539767.3:c.793C>T | XP_011538069.1:p.Arg265Ter | |
| XR_945732.3:n.816C>T | ||
| XR_945733.2:n.753C>T | ||
| NM_000043.6:c.748C>T MANE Select | NP_000034.1:p.Arg250Ter | |
| NM_001320619.2:c.*71C>T | NP_001307548.1:n.*71C>T | |
| NM_152871.4:c.685C>T | NP_690610.1:p.Arg229Ter | |
| NM_152872.4:c.*60C>T | NP_690611.1:n.*60C>T | |
| NR_028033.4:n.655C>T | ||
| NR_028034.4:n.517C>T | ||
| NR_028035.4:n.580C>T | ||
| NR_028036.4:n.718C>T | ||
| NR_135313.2:n.635C>T | ||
| NR_135314.2:n.914C>T | ||
| NR_135315.2:n.667C>T |