Linked Data
ClinVar Variation Id:
860668
ClinVar RCV Id:
RCV001067019
dbSNP Id:
rs1848675068
gnomAD v4:
10-89014218-T-C
COSMIC:
COSM5703783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014218T>C , CM000672.2:g.89014218T>C | GRCh38 |
| NC_000010.10:g.90773975T>C , CM000672.1:g.90773975T>C | GRCh37 |
| NC_000010.9:g.90763955T>C | NCBI36 |
| NG_009089.2:g.28688T>C , LRG_134:g.28688T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1085T>C | ||
| ENST00000355740.8:c.*99T>C | ENSP00000347979.3:n.*99T>C | |
| ENST00000357339.7:c.713T>C | ENSP00000349896.2:p.Ile238Thr | |
| ENST00000371857.8:n.2321T>C | ||
| ENST00000460510.6:c.59T>C | ENSP00000512812.1:p.Ile20Thr | |
| ENST00000466081.6:n.2425T>C | ||
| ENST00000477270.6:c.821T>C | ENSP00000512813.1:p.Ile274Thr | |
| ENST00000479522.6:c.*205T>C | ENSP00000424113.1:n.*205T>C | |
| ENST00000484444.6:c.*217T>C | ENSP00000420975.1:n.*217T>C | |
| ENST00000488877.6:c.667T>C | ENSP00000425159.1:n.667T>C | |
| ENST00000492756.7:c.*205T>C | ENSP00000422453.1:n.*205T>C | |
| ENST00000494799.6:c.59T>C | ENSP00000512834.1:p.Ile20Thr | |
| ENST00000562983.3:c.59T>C | ENSP00000512845.1:p.Ile20Thr | |
| ENST00000612663.6:c.*178T>C | ENSP00000477997.3:n.*178T>C | |
| ENST00000640140.2:n.921T>C | ||
| ENST00000640250.2:n.275T>C | ||
| ENST00000640681.2:n.880T>C | ||
| ENST00000696723.1:n.4409T>C | ||
| ENST00000696741.1:n.2414T>C | ||
| ENST00000696742.1:n.2141T>C | ||
| ENST00000696743.1:n.3544T>C | ||
| ENST00000696744.1:n.815T>C | ||
| ENST00000696767.1:n.1110T>C | ||
| ENST00000696768.1:c.*99T>C | ENSP00000512859.1:n.*99T>C | |
| ENST00000696769.1:n.2465T>C | ||
| ENST00000696771.1:c.59T>C | ENSP00000512860.1:p.Ile20Thr | |
| ENST00000696772.1:n.2379T>C | ||
| ENST00000696773.1:n.2118T>C | ||
| ENST00000696774.1:n.5886T>C | ||
| ENST00000696776.1:c.869T>C | ENSP00000512861.1:p.Ile290Thr | |
| ENST00000696777.1:n.2184T>C | ||
| ENST00000696778.1:n.1212T>C | ||
| ENST00000696779.1:c.383T>C | ENSP00000512862.1:p.Ile128Thr | |
| ENST00000696780.1:c.806T>C | ENSP00000512863.1:p.Ile269Thr | |
| ENST00000696781.1:c.521T>C | ENSP00000512864.1:p.Ile174Thr | |
| ENST00000696782.1:c.*178T>C | ENSP00000512865.1:n.*178T>C | |
| ENST00000696783.1:n.2644T>C | ||
| ENST00000696992.1:n.1893T>C | ||
| ENST00000696995.1:n.4305T>C | ||
| ENST00000696996.1:n.2218T>C | ||
| ENST00000696997.1:c.*406T>C | ENSP00000513028.1:n.*406T>C | |
| ENST00000696998.1:n.2030T>C | ||
| ENST00000696999.1:c.59T>C | ENSP00000513029.1:p.Ile20Thr | |
| ENST00000697035.1:c.*109T>C | ENSP00000513059.1:n.*109T>C | |
| ENST00000697036.1:c.*192T>C | ENSP00000513060.1:n.*192T>C | |
| ENST00000697037.1:n.811T>C | ||
| ENST00000697093.1:n.3012T>C | ||
| ENST00000697094.1:n.3359T>C | ||
| ENST00000697095.1:c.*1977T>C | ENSP00000513104.1:n.*1977T>C | |
| ENST00000697096.1:n.1909T>C | ||
| ENST00000697097.1:c.59T>C | ENSP00000513105.1:p.Ile20Thr | |
| ENST00000562983.2:n.962T>C | ||
| ENST00000690268.1:c.857T>C | ENSP00000509810.1:p.Ile286Thr | |
| ENST00000355740.7:c.*102T>C | ENSP00000347979.3:n.*102T>C | |
| ENST00000612663.5:c.*178T>C | ENSP00000477997.3:n.*178T>C | |
| ENST00000640140.1:n.948T>C | ||
| ENST00000640250.1:n.275T>C | ||
| ENST00000640681.1:n.897T>C | ||
| ENST00000652046.1:c.776T>C MANE Select | ENSP00000498466.1:p.Ile259Thr | |
| ENST00000352159.8:c.*93T>C | ENSP00000345601.4:n.*93T>C | |
| ENST00000355279.2:c.751T>C | ENSP00000347426.2:n.751T>C | |
| ENST00000355740.6:c.776T>C | ENSP00000347979.2:p.Ile259Thr | |
| ENST00000357339.6:c.713T>C | ENSP00000349896.2:p.Ile238Thr | |
| ENST00000479522.5:c.*205T>C | ENSP00000424113.1:n.*205T>C | |
| ENST00000484444.5:c.*217T>C | ENSP00000420975.1:n.*217T>C | |
| ENST00000488877.5:c.*217T>C | ENSP00000425159.1:n.*217T>C | |
| ENST00000492756.5:c.604T>C | ENSP00000422453.1:n.604T>C | |
| ENST00000494410.5:c.*134T>C | ENSP00000423755.1:n.*134T>C | |
| ENST00000612663.4:c.*123T>C | ENSP00000477997.2:n.*123T>C | |
| NM_000043.4:c.776T>C , LRG_134t1:c.776T>C | NP_000034.1:p.Ile259Thr | |
| NM_152871.2:c.713T>C | NP_690610.1:p.Ile238Thr | |
| NM_152872.2:c.*88T>C | NP_690611.1:n.*88T>C | |
| NR_028033.2:n.950T>C | ||
| NR_028034.2:n.812T>C | ||
| NR_028035.2:n.875T>C | ||
| NR_028036.2:n.1013T>C | ||
| XM_006717819.2:c.857T>C | XP_006717882.1:p.Ile286Thr | |
| XM_011539764.1:c.938T>C | XP_011538066.1:p.Ile313Thr | |
| XM_011539765.1:c.875T>C | XP_011538067.1:p.Ile292Thr | |
| XM_011539766.1:c.857T>C | XP_011538068.1:p.Ile286Thr | |
| XM_011539767.1:c.821T>C | XP_011538069.1:p.Ile274Thr | |
| XR_945732.1:n.844T>C | ||
| XR_945733.1:n.781T>C | ||
| NM_000043.5:c.776T>C | NP_000034.1:p.Ile259Thr | |
| NM_001320619.1:c.*99T>C | NP_001307548.1:n.*99T>C | |
| NM_152871.3:c.713T>C | NP_690610.1:p.Ile238Thr | |
| NM_152872.3:c.*88T>C | NP_690611.1:n.*88T>C | |
| NR_028033.3:n.922T>C | ||
| NR_028034.3:n.784T>C | ||
| NR_028035.3:n.847T>C | ||
| NR_028036.3:n.985T>C | ||
| NR_135313.1:n.902T>C | ||
| NR_135314.1:n.1085T>C | ||
| NR_135315.1:n.838T>C | ||
| XM_006717819.3:c.857T>C | XP_006717882.1:p.Ile286Thr | |
| XM_011539764.2:c.938T>C | XP_011538066.1:p.Ile313Thr | |
| XM_011539765.2:c.875T>C | XP_011538067.1:p.Ile292Thr | |
| XM_011539766.2:c.857T>C | XP_011538068.1:p.Ile286Thr | |
| XM_011539767.3:c.821T>C | XP_011538069.1:p.Ile274Thr | |
| XR_945732.3:n.844T>C | ||
| XR_945733.2:n.781T>C | ||
| NM_000043.6:c.776T>C MANE Select | NP_000034.1:p.Ile259Thr | |
| NM_001320619.2:c.*99T>C | NP_001307548.1:n.*99T>C | |
| NM_152871.4:c.713T>C | NP_690610.1:p.Ile238Thr | |
| NM_152872.4:c.*88T>C | NP_690611.1:n.*88T>C | |
| NR_028033.4:n.683T>C | ||
| NR_028034.4:n.545T>C | ||
| NR_028035.4:n.608T>C | ||
| NR_028036.4:n.746T>C | ||
| NR_135313.2:n.663T>C | ||
| NR_135314.2:n.942T>C | ||
| NR_135315.2:n.695T>C |