Linked Data
ClinVar Variation Id:
653881
ClinVar RCV Id:
RCV000809727
dbSNP Id:
rs3218611
ExAC:
10:90774113 C / T
gnomAD v2:
10-90774113-C-T
gnomAD v3:
10-89014356-C-T
gnomAD v4:
10-89014356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014356C>T , CM000672.2:g.89014356C>T | GRCh38 |
| NC_000010.10:g.90774113C>T , CM000672.1:g.90774113C>T | GRCh37 |
| NC_000010.9:g.90764093C>T | NCBI36 |
| NG_009089.2:g.28826C>T , LRG_134:g.28826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1223C>T | ||
| ENST00000355740.8:c.*237C>T | ENSP00000347979.3:n.*237C>T | |
| ENST00000357339.7:c.851C>T | ENSP00000349896.2:p.Thr284Ile | |
| ENST00000371857.8:n.2459C>T | ||
| ENST00000460510.6:c.197C>T | ENSP00000512812.1:p.Thr66Ile | |
| ENST00000466081.6:n.2563C>T | ||
| ENST00000477270.6:c.959C>T | ENSP00000512813.1:p.Thr320Ile | |
| ENST00000479522.6:c.*343C>T | ENSP00000424113.1:n.*343C>T | |
| ENST00000484444.6:c.*355C>T | ENSP00000420975.1:n.*355C>T | |
| ENST00000488877.6:c.805C>T | ENSP00000425159.1:n.805C>T | |
| ENST00000492756.7:c.*343C>T | ENSP00000422453.1:n.*343C>T | |
| ENST00000494799.6:c.197C>T | ENSP00000512834.1:p.Thr66Ile | |
| ENST00000562983.3:c.197C>T | ENSP00000512845.1:p.Thr66Ile | |
| ENST00000612663.6:c.*316C>T | ENSP00000477997.3:n.*316C>T | |
| ENST00000640140.2:n.1059C>T | ||
| ENST00000640250.2:n.413C>T | ||
| ENST00000640681.2:n.1018C>T | ||
| ENST00000696723.1:n.4547C>T | ||
| ENST00000696741.1:n.2552C>T | ||
| ENST00000696742.1:n.2279C>T | ||
| ENST00000696743.1:n.3682C>T | ||
| ENST00000696744.1:n.953C>T | ||
| ENST00000696767.1:n.1248C>T | ||
| ENST00000696768.1:c.*237C>T | ENSP00000512859.1:n.*237C>T | |
| ENST00000696769.1:n.2603C>T | ||
| ENST00000696771.1:c.197C>T | ENSP00000512860.1:p.Thr66Ile | |
| ENST00000696772.1:n.2517C>T | ||
| ENST00000696773.1:n.2256C>T | ||
| ENST00000696774.1:n.6024C>T | ||
| ENST00000696776.1:c.1007C>T | ENSP00000512861.1:p.Thr336Ile | |
| ENST00000696777.1:n.2322C>T | ||
| ENST00000696778.1:n.1350C>T | ||
| ENST00000696779.1:c.521C>T | ENSP00000512862.1:p.Thr174Ile | |
| ENST00000696780.1:c.944C>T | ENSP00000512863.1:p.Thr315Ile | |
| ENST00000696781.1:c.659C>T | ENSP00000512864.1:p.Thr220Ile | |
| ENST00000696782.1:c.*316C>T | ENSP00000512865.1:n.*316C>T | |
| ENST00000696783.1:n.2782C>T | ||
| ENST00000696992.1:n.2031C>T | ||
| ENST00000696995.1:n.4443C>T | ||
| ENST00000696996.1:n.2356C>T | ||
| ENST00000696997.1:c.*544C>T | ENSP00000513028.1:n.*544C>T | |
| ENST00000696998.1:n.2168C>T | ||
| ENST00000696999.1:c.197C>T | ENSP00000513029.1:p.Thr66Ile | |
| ENST00000697036.1:c.*330C>T | ENSP00000513060.1:n.*330C>T | |
| ENST00000697037.1:n.949C>T | ||
| ENST00000697093.1:n.3150C>T | ||
| ENST00000697094.1:n.3497C>T | ||
| ENST00000697095.1:c.*2115C>T | ENSP00000513104.1:n.*2115C>T | |
| ENST00000697096.1:n.2047C>T | ||
| ENST00000697097.1:c.197C>T | ENSP00000513105.1:p.Thr66Ile | |
| ENST00000562983.2:n.1100C>T | ||
| ENST00000690268.1:c.995C>T | ENSP00000509810.1:p.Thr332Ile | |
| ENST00000355740.7:c.*240C>T | ENSP00000347979.3:n.*240C>T | |
| ENST00000612663.5:c.*316C>T | ENSP00000477997.3:n.*316C>T | |
| ENST00000640140.1:n.1086C>T | ||
| ENST00000640250.1:n.413C>T | ||
| ENST00000640681.1:n.1035C>T | ||
| ENST00000652046.1:c.914C>T MANE Select | ENSP00000498466.1:p.Thr305Ile | |
| ENST00000352159.8:c.*231C>T | ENSP00000345601.4:n.*231C>T | |
| ENST00000355279.2:c.889C>T | ENSP00000347426.2:n.889C>T | |
| ENST00000355740.6:c.914C>T | ENSP00000347979.2:p.Thr305Ile | |
| ENST00000357339.6:c.851C>T | ENSP00000349896.2:p.Thr284Ile | |
| ENST00000479522.5:c.*343C>T | ENSP00000424113.1:n.*343C>T | |
| ENST00000484444.5:c.*355C>T | ENSP00000420975.1:n.*355C>T | |
| ENST00000488877.5:c.*355C>T | ENSP00000425159.1:n.*355C>T | |
| ENST00000492756.5:c.742C>T | ENSP00000422453.1:n.742C>T | |
| ENST00000494410.5:c.*272C>T | ENSP00000423755.1:n.*272C>T | |
| ENST00000612663.4:c.*261C>T | ENSP00000477997.2:n.*261C>T | |
| NM_000043.4:c.914C>T , LRG_134t1:c.914C>T | NP_000034.1:p.Thr305Ile | |
| NM_152871.2:c.851C>T | NP_690610.1:p.Thr284Ile | |
| NM_152872.2:c.*226C>T | NP_690611.1:n.*226C>T | |
| NR_028033.2:n.1088C>T | ||
| NR_028034.2:n.950C>T | ||
| NR_028035.2:n.1013C>T | ||
| NR_028036.2:n.1151C>T | ||
| XM_006717819.2:c.995C>T | XP_006717882.1:p.Thr332Ile | |
| XM_011539764.1:c.1076C>T | XP_011538066.1:p.Thr359Ile | |
| XM_011539765.1:c.1013C>T | XP_011538067.1:p.Thr338Ile | |
| XM_011539766.1:c.995C>T | XP_011538068.1:p.Thr332Ile | |
| XM_011539767.1:c.959C>T | XP_011538069.1:p.Thr320Ile | |
| XR_945732.1:n.982C>T | ||
| XR_945733.1:n.919C>T | ||
| NM_000043.5:c.914C>T | NP_000034.1:p.Thr305Ile | |
| NM_001320619.1:c.*237C>T | NP_001307548.1:n.*237C>T | |
| NM_152871.3:c.851C>T | NP_690610.1:p.Thr284Ile | |
| NM_152872.3:c.*226C>T | NP_690611.1:n.*226C>T | |
| NR_028033.3:n.1060C>T | ||
| NR_028034.3:n.922C>T | ||
| NR_028035.3:n.985C>T | ||
| NR_028036.3:n.1123C>T | ||
| NR_135313.1:n.1040C>T | ||
| NR_135314.1:n.1223C>T | ||
| NR_135315.1:n.976C>T | ||
| XM_006717819.3:c.995C>T | XP_006717882.1:p.Thr332Ile | |
| XM_011539764.2:c.1076C>T | XP_011538066.1:p.Thr359Ile | |
| XM_011539765.2:c.1013C>T | XP_011538067.1:p.Thr338Ile | |
| XM_011539766.2:c.995C>T | XP_011538068.1:p.Thr332Ile | |
| XM_011539767.3:c.959C>T | XP_011538069.1:p.Thr320Ile | |
| XR_945732.3:n.982C>T | ||
| XR_945733.2:n.919C>T | ||
| NM_000043.6:c.914C>T MANE Select | NP_000034.1:p.Thr305Ile | |
| NM_001320619.2:c.*237C>T | NP_001307548.1:n.*237C>T | |
| NM_152871.4:c.851C>T | NP_690610.1:p.Thr284Ile | |
| NM_152872.4:c.*226C>T | NP_690611.1:n.*226C>T | |
| NR_028033.4:n.821C>T | ||
| NR_028034.4:n.683C>T | ||
| NR_028035.4:n.746C>T | ||
| NR_028036.4:n.884C>T | ||
| NR_135313.2:n.801C>T | ||
| NR_135314.2:n.1080C>T | ||
| NR_135315.2:n.833C>T |