Linked Data
ClinVar Variation Id:
1391178
ClinVar RCV Id:
RCV001881885
dbSNP Id:
rs1848687177
gnomAD v4:
10-89014395-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014395T>C , CM000672.2:g.89014395T>C | GRCh38 |
| NC_000010.10:g.90774152T>C , CM000672.1:g.90774152T>C | GRCh37 |
| NC_000010.9:g.90764132T>C | NCBI36 |
| NG_009089.2:g.28865T>C , LRG_134:g.28865T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1262T>C | ||
| ENST00000355740.8:c.*276T>C | ENSP00000347979.3:n.*276T>C | |
| ENST00000357339.7:c.890T>C | ENSP00000349896.2:p.Ile297Thr | |
| ENST00000371857.8:n.2498T>C | ||
| ENST00000460510.6:c.236T>C | ENSP00000512812.1:p.Ile79Thr | |
| ENST00000466081.6:n.2602T>C | ||
| ENST00000477270.6:c.998T>C | ENSP00000512813.1:p.Ile333Thr | |
| ENST00000479522.6:c.*382T>C | ENSP00000424113.1:n.*382T>C | |
| ENST00000484444.6:c.*394T>C | ENSP00000420975.1:n.*394T>C | |
| ENST00000488877.6:c.844T>C | ENSP00000425159.1:n.844T>C | |
| ENST00000492756.7:c.*382T>C | ENSP00000422453.1:n.*382T>C | |
| ENST00000494799.6:c.236T>C | ENSP00000512834.1:p.Ile79Thr | |
| ENST00000562983.3:c.236T>C | ENSP00000512845.1:p.Ile79Thr | |
| ENST00000612663.6:c.*355T>C | ENSP00000477997.3:n.*355T>C | |
| ENST00000640140.2:n.1098T>C | ||
| ENST00000640250.2:n.452T>C | ||
| ENST00000640681.2:n.1057T>C | ||
| ENST00000696723.1:n.4586T>C | ||
| ENST00000696741.1:n.2591T>C | ||
| ENST00000696742.1:n.2318T>C | ||
| ENST00000696743.1:n.3721T>C | ||
| ENST00000696744.1:n.992T>C | ||
| ENST00000696767.1:n.1287T>C | ||
| ENST00000696768.1:c.*276T>C | ENSP00000512859.1:n.*276T>C | |
| ENST00000696769.1:n.2642T>C | ||
| ENST00000696771.1:c.236T>C | ENSP00000512860.1:p.Ile79Thr | |
| ENST00000696772.1:n.2556T>C | ||
| ENST00000696773.1:n.2295T>C | ||
| ENST00000696774.1:n.6063T>C | ||
| ENST00000696776.1:c.1046T>C | ENSP00000512861.1:p.Ile349Thr | |
| ENST00000696777.1:n.2361T>C | ||
| ENST00000696778.1:n.1389T>C | ||
| ENST00000696779.1:c.560T>C | ENSP00000512862.1:p.Ile187Thr | |
| ENST00000696780.1:c.983T>C | ENSP00000512863.1:p.Ile328Thr | |
| ENST00000696781.1:c.698T>C | ENSP00000512864.1:p.Ile233Thr | |
| ENST00000696782.1:c.*355T>C | ENSP00000512865.1:n.*355T>C | |
| ENST00000696783.1:n.2821T>C | ||
| ENST00000696992.1:n.2070T>C | ||
| ENST00000696995.1:n.4482T>C | ||
| ENST00000696996.1:n.2395T>C | ||
| ENST00000696997.1:c.*583T>C | ENSP00000513028.1:n.*583T>C | |
| ENST00000696998.1:n.2207T>C | ||
| ENST00000696999.1:c.236T>C | ENSP00000513029.1:p.Ile79Thr | |
| ENST00000697036.1:c.*369T>C | ENSP00000513060.1:n.*369T>C | |
| ENST00000697037.1:n.988T>C | ||
| ENST00000697093.1:n.3189T>C | ||
| ENST00000697094.1:n.3536T>C | ||
| ENST00000697095.1:c.*2154T>C | ENSP00000513104.1:n.*2154T>C | |
| ENST00000697096.1:n.2086T>C | ||
| ENST00000697097.1:c.236T>C | ENSP00000513105.1:p.Ile79Thr | |
| ENST00000562983.2:n.1139T>C | ||
| ENST00000690268.1:c.1034T>C | ENSP00000509810.1:p.Ile345Thr | |
| ENST00000355740.7:c.*279T>C | ENSP00000347979.3:n.*279T>C | |
| ENST00000612663.5:c.*355T>C | ENSP00000477997.3:n.*355T>C | |
| ENST00000640140.1:n.1125T>C | ||
| ENST00000640250.1:n.452T>C | ||
| ENST00000640681.1:n.1074T>C | ||
| ENST00000652046.1:c.953T>C MANE Select | ENSP00000498466.1:p.Ile318Thr | |
| ENST00000352159.8:c.*270T>C | ENSP00000345601.4:n.*270T>C | |
| ENST00000355279.2:c.928T>C | ENSP00000347426.2:n.928T>C | |
| ENST00000355740.6:c.953T>C | ENSP00000347979.2:p.Ile318Thr | |
| ENST00000357339.6:c.890T>C | ENSP00000349896.2:p.Ile297Thr | |
| ENST00000479522.5:c.*382T>C | ENSP00000424113.1:n.*382T>C | |
| ENST00000484444.5:c.*394T>C | ENSP00000420975.1:n.*394T>C | |
| ENST00000488877.5:c.*394T>C | ENSP00000425159.1:n.*394T>C | |
| ENST00000492756.5:c.781T>C | ENSP00000422453.1:n.781T>C | |
| ENST00000494410.5:c.*311T>C | ENSP00000423755.1:n.*311T>C | |
| ENST00000612663.4:c.*300T>C | ENSP00000477997.2:n.*300T>C | |
| NM_000043.4:c.953T>C , LRG_134t1:c.953T>C | NP_000034.1:p.Ile318Thr | |
| NM_152871.2:c.890T>C | NP_690610.1:p.Ile297Thr | |
| NM_152872.2:c.*265T>C | NP_690611.1:n.*265T>C | |
| NR_028033.2:n.1127T>C | ||
| NR_028034.2:n.989T>C | ||
| NR_028035.2:n.1052T>C | ||
| NR_028036.2:n.1190T>C | ||
| XM_006717819.2:c.1034T>C | XP_006717882.1:p.Ile345Thr | |
| XM_011539764.1:c.1115T>C | XP_011538066.1:p.Ile372Thr | |
| XM_011539765.1:c.1052T>C | XP_011538067.1:p.Ile351Thr | |
| XM_011539766.1:c.1034T>C | XP_011538068.1:p.Ile345Thr | |
| XM_011539767.1:c.998T>C | XP_011538069.1:p.Ile333Thr | |
| XR_945733.1:n.958T>C | ||
| NM_000043.5:c.953T>C | NP_000034.1:p.Ile318Thr | |
| NM_001320619.1:c.*276T>C | NP_001307548.1:n.*276T>C | |
| NM_152871.3:c.890T>C | NP_690610.1:p.Ile297Thr | |
| NM_152872.3:c.*265T>C | NP_690611.1:n.*265T>C | |
| NR_028033.3:n.1099T>C | ||
| NR_028034.3:n.961T>C | ||
| NR_028035.3:n.1024T>C | ||
| NR_028036.3:n.1162T>C | ||
| NR_135313.1:n.1079T>C | ||
| NR_135314.1:n.1262T>C | ||
| NR_135315.1:n.1015T>C | ||
| XM_006717819.3:c.1034T>C | XP_006717882.1:p.Ile345Thr | |
| XM_011539764.2:c.1115T>C | XP_011538066.1:p.Ile372Thr | |
| XM_011539765.2:c.1052T>C | XP_011538067.1:p.Ile351Thr | |
| XM_011539766.2:c.1034T>C | XP_011538068.1:p.Ile345Thr | |
| XM_011539767.3:c.998T>C | XP_011538069.1:p.Ile333Thr | |
| XR_945732.3:n.1021T>C | ||
| XR_945733.2:n.958T>C | ||
| NM_000043.6:c.953T>C MANE Select | NP_000034.1:p.Ile318Thr | |
| NM_001320619.2:c.*276T>C | NP_001307548.1:n.*276T>C | |
| NM_152871.4:c.890T>C | NP_690610.1:p.Ile297Thr | |
| NM_152872.4:c.*265T>C | NP_690611.1:n.*265T>C | |
| NR_028033.4:n.860T>C | ||
| NR_028034.4:n.722T>C | ||
| NR_028035.4:n.785T>C | ||
| NR_028036.4:n.923T>C | ||
| NR_135313.2:n.840T>C | ||
| NR_135314.2:n.1119T>C | ||
| NR_135315.2:n.872T>C |