gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9558725 (EAS)
Genomes Max Group AF
0.95116955 (EAS)
Exomes Max Group AF
0.95407357 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89012072T>C , CM000672.2:g.89012072T>C | GRCh38 |
| NC_000010.10:g.90771829T>C , CM000672.1:g.90771829T>C | GRCh37 |
| NC_000010.9:g.90761809T>C | NCBI36 |
| NG_009089.2:g.26542T>C , LRG_134:g.26542T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.951T>C | ||
| ENST00000355740.8:c.568+1257T>C | ENSP00000347979.3:n.568+1257T>C | |
| ENST00000357339.7:c.579T>C | ENSP00000349896.2:p.Thr193= | |
| ENST00000371857.8:n.2187T>C | ||
| ENST00000460510.6:c.-76T>C | ENSP00000512812.1:n.-76T>C | |
| ENST00000466081.6:n.2037T>C | ||
| ENST00000477270.6:c.687T>C | ENSP00000512813.1:p.Thr229= | |
| ENST00000479522.6:c.*71T>C | ENSP00000424113.1:n.*71T>C | |
| ENST00000484444.6:c.*83T>C | ENSP00000420975.1:n.*83T>C | |
| ENST00000488877.6:c.533T>C | ENSP00000425159.1:n.533T>C | |
| ENST00000492756.7:c.*71T>C | ENSP00000422453.1:n.*71T>C | |
| ENST00000494799.6:c.-76T>C | ENSP00000512834.1:n.-76T>C | |
| ENST00000562983.3:c.-76T>C | ENSP00000512845.1:n.-76T>C | |
| ENST00000612663.6:c.642T>C | ENSP00000477997.3:p.Thr214= | |
| ENST00000640140.2:n.787T>C | ||
| ENST00000640681.2:n.746T>C | ||
| ENST00000696723.1:n.4275T>C | ||
| ENST00000696741.1:n.2280T>C | ||
| ENST00000696742.1:n.2007T>C | ||
| ENST00000696743.1:n.2149T>C | ||
| ENST00000696744.1:n.681T>C | ||
| ENST00000696767.1:n.976T>C | ||
| ENST00000696768.1:c.506-1271T>C | ENSP00000512859.1:n.506-1271T>C | |
| ENST00000696769.1:n.2331T>C | ||
| ENST00000696770.1:n.4752T>C | ||
| ENST00000696771.1:c.-76T>C | ENSP00000512860.1:n.-76T>C | |
| ENST00000696772.1:n.1991T>C | ||
| ENST00000696773.1:n.1984T>C | ||
| ENST00000696774.1:n.3740T>C | ||
| ENST00000696776.1:c.735T>C | ENSP00000512861.1:p.Thr245= | |
| ENST00000696777.1:n.2050T>C | ||
| ENST00000696778.1:n.824T>C | ||
| ENST00000696779.1:c.259-1271T>C | ENSP00000512862.1:n.259-1271T>C | |
| ENST00000696780.1:c.672T>C | ENSP00000512863.1:p.Thr224= | |
| ENST00000696781.1:c.397-1271T>C | ENSP00000512864.1:n.397-1271T>C | |
| ENST00000696782.1:c.579T>C | ENSP00000512865.1:p.Thr193= | |
| ENST00000696783.1:n.2510T>C | ||
| ENST00000696992.1:n.1759T>C | ||
| ENST00000696995.1:n.2159T>C | ||
| ENST00000696996.1:n.823T>C | ||
| ENST00000696997.1:c.*272T>C | ENSP00000513028.1:n.*272T>C | |
| ENST00000696998.1:n.1896T>C | ||
| ENST00000696999.1:c.-76T>C | ENSP00000513029.1:n.-76T>C | |
| ENST00000697035.1:c.642T>C | ENSP00000513059.1:p.Thr214= | |
| ENST00000697036.1:c.*83T>C | ENSP00000513060.1:n.*83T>C | |
| ENST00000697037.1:n.677T>C | ||
| ENST00000697093.1:n.866T>C | ||
| ENST00000697094.1:n.1964T>C | ||
| ENST00000697095.1:c.*1843T>C | ENSP00000513104.1:n.*1843T>C | |
| ENST00000697096.1:n.1775T>C | ||
| ENST00000697097.1:c.-76T>C | ENSP00000513105.1:n.-76T>C | |
| ENST00000562983.2:n.828T>C | ||
| ENST00000690268.1:c.723T>C | ENSP00000509810.1:p.Thr241= | |
| ENST00000355740.7:c.568+1257T>C | ENSP00000347979.3:n.568+1257T>C | |
| ENST00000612663.5:c.642T>C | ENSP00000477997.3:p.Thr214= | |
| ENST00000640140.1:n.814T>C | ||
| ENST00000640681.1:n.763T>C | ||
| ENST00000652046.1:c.642T>C MANE Select | ENSP00000498466.1:p.Thr214= | |
| ENST00000313771.9:n.951T>C | ||
| ENST00000352159.8:c.642T>C | ENSP00000345601.4:p.Thr214= | |
| ENST00000355279.2:c.642T>C | ENSP00000347426.2:p.Thr214= | |
| ENST00000355740.6:c.642T>C | ENSP00000347979.2:p.Thr214= | |
| ENST00000357339.6:c.579T>C | ENSP00000349896.2:p.Thr193= | |
| ENST00000479522.5:c.*71T>C | ENSP00000424113.1:n.*71T>C | |
| ENST00000484444.5:c.*83T>C | ENSP00000420975.1:n.*83T>C | |
| ENST00000487314.1:n.791T>C | ||
| ENST00000488877.5:c.*83T>C | ENSP00000425159.1:n.*83T>C | |
| ENST00000492756.5:c.470T>C | ENSP00000422453.1:n.470T>C | |
| ENST00000494410.5:c.*9+1257T>C | ENSP00000423755.1:n.*9+1257T>C | |
| ENST00000494799.5:n.549T>C | ||
| ENST00000612663.4:c.640T>C | ENSP00000477997.2:p.Phe214Leu | |
| ENST00000615406.4:c.642T>C | ENSP00000484575.1:p.Thr214= | |
| ENST00000626542.2:c.642T>C | ENSP00000485876.1:p.Thr214= | |
| NM_000043.4:c.642T>C , LRG_134t1:c.642T>C | NP_000034.1:p.Thr214= | |
| NM_152871.2:c.579T>C | NP_690610.1:p.Thr193= | |
| NM_152872.2:c.642T>C | NP_690611.1:p.Thr214= | |
| NR_028033.2:n.816T>C | ||
| NR_028034.2:n.678T>C | ||
| NR_028035.2:n.741T>C | ||
| NR_028036.2:n.879T>C | ||
| XM_006717819.2:c.723T>C | XP_006717882.1:p.Thr241= | |
| XM_011539764.1:c.804T>C | XP_011538066.1:p.Thr268= | |
| XM_011539765.1:c.741T>C | XP_011538067.1:p.Thr247= | |
| XM_011539766.1:c.723T>C | XP_011538068.1:p.Thr241= | |
| XM_011539767.1:c.687T>C | XP_011538069.1:p.Thr229= | |
| XR_945732.1:n.710T>C | ||
| XR_945733.1:n.647T>C | ||
| NM_000043.5:c.642T>C | NP_000034.1:p.Thr214= | |
| NM_001320619.1:c.568+1257T>C | NP_001307548.1:n.568+1257T>C | |
| NM_152871.3:c.579T>C | NP_690610.1:p.Thr193= | |
| NM_152872.3:c.642T>C | NP_690611.1:p.Thr214= | |
| NR_028033.3:n.788T>C | ||
| NR_028034.3:n.650T>C | ||
| NR_028035.3:n.713T>C | ||
| NR_028036.3:n.851T>C | ||
| NR_135313.1:n.777+1257T>C | ||
| NR_135314.1:n.951T>C | ||
| NR_135315.1:n.704T>C | ||
| XM_006717819.3:c.723T>C | XP_006717882.1:p.Thr241= | |
| XM_011539764.2:c.804T>C | XP_011538066.1:p.Thr268= | |
| XM_011539765.2:c.741T>C | XP_011538067.1:p.Thr247= | |
| XM_011539766.2:c.723T>C | XP_011538068.1:p.Thr241= | |
| XM_011539767.3:c.687T>C | XP_011538069.1:p.Thr229= | |
| XR_945732.3:n.710T>C | ||
| XR_945733.2:n.647T>C | ||
| NM_000043.6:c.642T>C MANE Select | NP_000034.1:p.Thr214= | |
| NM_001320619.2:c.568+1257T>C | NP_001307548.1:n.568+1257T>C | |
| NM_152871.4:c.579T>C | NP_690610.1:p.Thr193= | |
| NM_152872.4:c.642T>C | NP_690611.1:p.Thr214= | |
| NR_028033.4:n.549T>C | ||
| NR_028034.4:n.411T>C | ||
| NR_028035.4:n.474T>C | ||
| NR_028036.4:n.612T>C | ||
| NR_135313.2:n.538+1257T>C | ||
| NR_135314.2:n.808T>C | ||
| NR_135315.2:n.561T>C |