Linked Data
ClinVar Variation Id:
1397440
ClinVar RCV Id:
RCV001891705
dbSNP Id:
rs2119447206
gnomAD v4:
10-89014320-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014320C>T , CM000672.2:g.89014320C>T | GRCh38 |
| NC_000010.10:g.90774077C>T , CM000672.1:g.90774077C>T | GRCh37 |
| NC_000010.9:g.90764057C>T | NCBI36 |
| NG_009089.2:g.28790C>T , LRG_134:g.28790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1187C>T | ||
| ENST00000355740.8:c.*201C>T | ENSP00000347979.3:n.*201C>T | |
| ENST00000357339.7:c.815C>T | ENSP00000349896.2:p.Thr272Ile | |
| ENST00000371857.8:n.2423C>T | ||
| ENST00000460510.6:c.161C>T | ENSP00000512812.1:p.Thr54Ile | |
| ENST00000466081.6:n.2527C>T | ||
| ENST00000477270.6:c.923C>T | ENSP00000512813.1:p.Thr308Ile | |
| ENST00000479522.6:c.*307C>T | ENSP00000424113.1:n.*307C>T | |
| ENST00000484444.6:c.*319C>T | ENSP00000420975.1:n.*319C>T | |
| ENST00000488877.6:c.769C>T | ENSP00000425159.1:n.769C>T | |
| ENST00000492756.7:c.*307C>T | ENSP00000422453.1:n.*307C>T | |
| ENST00000494799.6:c.161C>T | ENSP00000512834.1:p.Thr54Ile | |
| ENST00000562983.3:c.161C>T | ENSP00000512845.1:p.Thr54Ile | |
| ENST00000612663.6:c.*280C>T | ENSP00000477997.3:n.*280C>T | |
| ENST00000640140.2:n.1023C>T | ||
| ENST00000640250.2:n.377C>T | ||
| ENST00000640681.2:n.982C>T | ||
| ENST00000696723.1:n.4511C>T | ||
| ENST00000696741.1:n.2516C>T | ||
| ENST00000696742.1:n.2243C>T | ||
| ENST00000696743.1:n.3646C>T | ||
| ENST00000696744.1:n.917C>T | ||
| ENST00000696767.1:n.1212C>T | ||
| ENST00000696768.1:c.*201C>T | ENSP00000512859.1:n.*201C>T | |
| ENST00000696769.1:n.2567C>T | ||
| ENST00000696771.1:c.161C>T | ENSP00000512860.1:p.Thr54Ile | |
| ENST00000696772.1:n.2481C>T | ||
| ENST00000696773.1:n.2220C>T | ||
| ENST00000696774.1:n.5988C>T | ||
| ENST00000696776.1:c.971C>T | ENSP00000512861.1:p.Thr324Ile | |
| ENST00000696777.1:n.2286C>T | ||
| ENST00000696778.1:n.1314C>T | ||
| ENST00000696779.1:c.485C>T | ENSP00000512862.1:p.Thr162Ile | |
| ENST00000696780.1:c.908C>T | ENSP00000512863.1:p.Thr303Ile | |
| ENST00000696781.1:c.623C>T | ENSP00000512864.1:p.Thr208Ile | |
| ENST00000696782.1:c.*280C>T | ENSP00000512865.1:n.*280C>T | |
| ENST00000696783.1:n.2746C>T | ||
| ENST00000696992.1:n.1995C>T | ||
| ENST00000696995.1:n.4407C>T | ||
| ENST00000696996.1:n.2320C>T | ||
| ENST00000696997.1:c.*508C>T | ENSP00000513028.1:n.*508C>T | |
| ENST00000696998.1:n.2132C>T | ||
| ENST00000696999.1:c.161C>T | ENSP00000513029.1:p.Thr54Ile | |
| ENST00000697036.1:c.*294C>T | ENSP00000513060.1:n.*294C>T | |
| ENST00000697037.1:n.913C>T | ||
| ENST00000697093.1:n.3114C>T | ||
| ENST00000697094.1:n.3461C>T | ||
| ENST00000697095.1:c.*2079C>T | ENSP00000513104.1:n.*2079C>T | |
| ENST00000697096.1:n.2011C>T | ||
| ENST00000697097.1:c.161C>T | ENSP00000513105.1:p.Thr54Ile | |
| ENST00000562983.2:n.1064C>T | ||
| ENST00000690268.1:c.959C>T | ENSP00000509810.1:p.Thr320Ile | |
| ENST00000355740.7:c.*204C>T | ENSP00000347979.3:n.*204C>T | |
| ENST00000612663.5:c.*280C>T | ENSP00000477997.3:n.*280C>T | |
| ENST00000640140.1:n.1050C>T | ||
| ENST00000640250.1:n.377C>T | ||
| ENST00000640681.1:n.999C>T | ||
| ENST00000652046.1:c.878C>T MANE Select | ENSP00000498466.1:p.Thr293Ile | |
| ENST00000352159.8:c.*195C>T | ENSP00000345601.4:n.*195C>T | |
| ENST00000355279.2:c.853C>T | ENSP00000347426.2:n.853C>T | |
| ENST00000355740.6:c.878C>T | ENSP00000347979.2:p.Thr293Ile | |
| ENST00000357339.6:c.815C>T | ENSP00000349896.2:p.Thr272Ile | |
| ENST00000479522.5:c.*307C>T | ENSP00000424113.1:n.*307C>T | |
| ENST00000484444.5:c.*319C>T | ENSP00000420975.1:n.*319C>T | |
| ENST00000488877.5:c.*319C>T | ENSP00000425159.1:n.*319C>T | |
| ENST00000492756.5:c.706C>T | ENSP00000422453.1:n.706C>T | |
| ENST00000494410.5:c.*236C>T | ENSP00000423755.1:n.*236C>T | |
| ENST00000612663.4:c.*225C>T | ENSP00000477997.2:n.*225C>T | |
| NM_000043.4:c.878C>T , LRG_134t1:c.878C>T | NP_000034.1:p.Thr293Ile | |
| NM_152871.2:c.815C>T | NP_690610.1:p.Thr272Ile | |
| NM_152872.2:c.*190C>T | NP_690611.1:n.*190C>T | |
| NR_028033.2:n.1052C>T | ||
| NR_028034.2:n.914C>T | ||
| NR_028035.2:n.977C>T | ||
| NR_028036.2:n.1115C>T | ||
| XM_006717819.2:c.959C>T | XP_006717882.1:p.Thr320Ile | |
| XM_011539764.1:c.1040C>T | XP_011538066.1:p.Thr347Ile | |
| XM_011539765.1:c.977C>T | XP_011538067.1:p.Thr326Ile | |
| XM_011539766.1:c.959C>T | XP_011538068.1:p.Thr320Ile | |
| XM_011539767.1:c.923C>T | XP_011538069.1:p.Thr308Ile | |
| XR_945732.1:n.946C>T | ||
| XR_945733.1:n.883C>T | ||
| NM_000043.5:c.878C>T | NP_000034.1:p.Thr293Ile | |
| NM_001320619.1:c.*201C>T | NP_001307548.1:n.*201C>T | |
| NM_152871.3:c.815C>T | NP_690610.1:p.Thr272Ile | |
| NM_152872.3:c.*190C>T | NP_690611.1:n.*190C>T | |
| NR_028033.3:n.1024C>T | ||
| NR_028034.3:n.886C>T | ||
| NR_028035.3:n.949C>T | ||
| NR_028036.3:n.1087C>T | ||
| NR_135313.1:n.1004C>T | ||
| NR_135314.1:n.1187C>T | ||
| NR_135315.1:n.940C>T | ||
| XM_006717819.3:c.959C>T | XP_006717882.1:p.Thr320Ile | |
| XM_011539764.2:c.1040C>T | XP_011538066.1:p.Thr347Ile | |
| XM_011539765.2:c.977C>T | XP_011538067.1:p.Thr326Ile | |
| XM_011539766.2:c.959C>T | XP_011538068.1:p.Thr320Ile | |
| XM_011539767.3:c.923C>T | XP_011538069.1:p.Thr308Ile | |
| XR_945732.3:n.946C>T | ||
| XR_945733.2:n.883C>T | ||
| NM_000043.6:c.878C>T MANE Select | NP_000034.1:p.Thr293Ile | |
| NM_001320619.2:c.*201C>T | NP_001307548.1:n.*201C>T | |
| NM_152871.4:c.815C>T | NP_690610.1:p.Thr272Ile | |
| NM_152872.4:c.*190C>T | NP_690611.1:n.*190C>T | |
| NR_028033.4:n.785C>T | ||
| NR_028034.4:n.647C>T | ||
| NR_028035.4:n.710C>T | ||
| NR_028036.4:n.848C>T | ||
| NR_135313.2:n.765C>T | ||
| NR_135314.2:n.1044C>T | ||
| NR_135315.2:n.797C>T |