Linked Data
ClinVar Variation Id:
2961796
ClinVar RCV Id:
RCV003822442
dbSNP Id:
rs760993872
ExAC:
10:90774068 C / T
gnomAD v2:
10-90774068-C-T
gnomAD v3:
10-89014311-C-T
gnomAD v4:
10-89014311-C-T
COSMIC:
COSM921234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014311C>T , CM000672.2:g.89014311C>T | GRCh38 |
| NC_000010.10:g.90774068C>T , CM000672.1:g.90774068C>T | GRCh37 |
| NC_000010.9:g.90764048C>T | NCBI36 |
| NG_009089.2:g.28781C>T , LRG_134:g.28781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1178C>T | ||
| ENST00000355740.8:c.*192C>T | ENSP00000347979.3:n.*192C>T | |
| ENST00000357339.7:c.806C>T | ENSP00000349896.2:p.Ala269Val | |
| ENST00000371857.8:n.2414C>T | ||
| ENST00000460510.6:c.152C>T | ENSP00000512812.1:p.Ala51Val | |
| ENST00000466081.6:n.2518C>T | ||
| ENST00000477270.6:c.914C>T | ENSP00000512813.1:p.Ala305Val | |
| ENST00000479522.6:c.*298C>T | ENSP00000424113.1:n.*298C>T | |
| ENST00000484444.6:c.*310C>T | ENSP00000420975.1:n.*310C>T | |
| ENST00000488877.6:c.760C>T | ENSP00000425159.1:n.760C>T | |
| ENST00000492756.7:c.*298C>T | ENSP00000422453.1:n.*298C>T | |
| ENST00000494799.6:c.152C>T | ENSP00000512834.1:p.Ala51Val | |
| ENST00000562983.3:c.152C>T | ENSP00000512845.1:p.Ala51Val | |
| ENST00000612663.6:c.*271C>T | ENSP00000477997.3:n.*271C>T | |
| ENST00000640140.2:n.1014C>T | ||
| ENST00000640250.2:n.368C>T | ||
| ENST00000640681.2:n.973C>T | ||
| ENST00000696723.1:n.4502C>T | ||
| ENST00000696741.1:n.2507C>T | ||
| ENST00000696742.1:n.2234C>T | ||
| ENST00000696743.1:n.3637C>T | ||
| ENST00000696744.1:n.908C>T | ||
| ENST00000696767.1:n.1203C>T | ||
| ENST00000696768.1:c.*192C>T | ENSP00000512859.1:n.*192C>T | |
| ENST00000696769.1:n.2558C>T | ||
| ENST00000696771.1:c.152C>T | ENSP00000512860.1:p.Ala51Val | |
| ENST00000696772.1:n.2472C>T | ||
| ENST00000696773.1:n.2211C>T | ||
| ENST00000696774.1:n.5979C>T | ||
| ENST00000696776.1:c.962C>T | ENSP00000512861.1:p.Ala321Val | |
| ENST00000696777.1:n.2277C>T | ||
| ENST00000696778.1:n.1305C>T | ||
| ENST00000696779.1:c.476C>T | ENSP00000512862.1:p.Ala159Val | |
| ENST00000696780.1:c.899C>T | ENSP00000512863.1:p.Ala300Val | |
| ENST00000696781.1:c.614C>T | ENSP00000512864.1:p.Ala205Val | |
| ENST00000696782.1:c.*271C>T | ENSP00000512865.1:n.*271C>T | |
| ENST00000696783.1:n.2737C>T | ||
| ENST00000696992.1:n.1986C>T | ||
| ENST00000696995.1:n.4398C>T | ||
| ENST00000696996.1:n.2311C>T | ||
| ENST00000696997.1:c.*499C>T | ENSP00000513028.1:n.*499C>T | |
| ENST00000696998.1:n.2123C>T | ||
| ENST00000696999.1:c.152C>T | ENSP00000513029.1:p.Ala51Val | |
| ENST00000697036.1:c.*285C>T | ENSP00000513060.1:n.*285C>T | |
| ENST00000697037.1:n.904C>T | ||
| ENST00000697093.1:n.3105C>T | ||
| ENST00000697094.1:n.3452C>T | ||
| ENST00000697095.1:c.*2070C>T | ENSP00000513104.1:n.*2070C>T | |
| ENST00000697096.1:n.2002C>T | ||
| ENST00000697097.1:c.152C>T | ENSP00000513105.1:p.Ala51Val | |
| ENST00000562983.2:n.1055C>T | ||
| ENST00000690268.1:c.950C>T | ENSP00000509810.1:p.Ala317Val | |
| ENST00000355740.7:c.*195C>T | ENSP00000347979.3:n.*195C>T | |
| ENST00000612663.5:c.*271C>T | ENSP00000477997.3:n.*271C>T | |
| ENST00000640140.1:n.1041C>T | ||
| ENST00000640250.1:n.368C>T | ||
| ENST00000640681.1:n.990C>T | ||
| ENST00000652046.1:c.869C>T MANE Select | ENSP00000498466.1:p.Ala290Val | |
| ENST00000352159.8:c.*186C>T | ENSP00000345601.4:n.*186C>T | |
| ENST00000355279.2:c.844C>T | ENSP00000347426.2:n.844C>T | |
| ENST00000355740.6:c.869C>T | ENSP00000347979.2:p.Ala290Val | |
| ENST00000357339.6:c.806C>T | ENSP00000349896.2:p.Ala269Val | |
| ENST00000479522.5:c.*298C>T | ENSP00000424113.1:n.*298C>T | |
| ENST00000484444.5:c.*310C>T | ENSP00000420975.1:n.*310C>T | |
| ENST00000488877.5:c.*310C>T | ENSP00000425159.1:n.*310C>T | |
| ENST00000492756.5:c.697C>T | ENSP00000422453.1:n.697C>T | |
| ENST00000494410.5:c.*227C>T | ENSP00000423755.1:n.*227C>T | |
| ENST00000612663.4:c.*216C>T | ENSP00000477997.2:n.*216C>T | |
| NM_000043.4:c.869C>T , LRG_134t1:c.869C>T | NP_000034.1:p.Ala290Val | |
| NM_152871.2:c.806C>T | NP_690610.1:p.Ala269Val | |
| NM_152872.2:c.*181C>T | NP_690611.1:n.*181C>T | |
| NR_028033.2:n.1043C>T | ||
| NR_028034.2:n.905C>T | ||
| NR_028035.2:n.968C>T | ||
| NR_028036.2:n.1106C>T | ||
| XM_006717819.2:c.950C>T | XP_006717882.1:p.Ala317Val | |
| XM_011539764.1:c.1031C>T | XP_011538066.1:p.Ala344Val | |
| XM_011539765.1:c.968C>T | XP_011538067.1:p.Ala323Val | |
| XM_011539766.1:c.950C>T | XP_011538068.1:p.Ala317Val | |
| XM_011539767.1:c.914C>T | XP_011538069.1:p.Ala305Val | |
| XR_945732.1:n.937C>T | ||
| XR_945733.1:n.874C>T | ||
| NM_000043.5:c.869C>T | NP_000034.1:p.Ala290Val | |
| NM_001320619.1:c.*192C>T | NP_001307548.1:n.*192C>T | |
| NM_152871.3:c.806C>T | NP_690610.1:p.Ala269Val | |
| NM_152872.3:c.*181C>T | NP_690611.1:n.*181C>T | |
| NR_028033.3:n.1015C>T | ||
| NR_028034.3:n.877C>T | ||
| NR_028035.3:n.940C>T | ||
| NR_028036.3:n.1078C>T | ||
| NR_135313.1:n.995C>T | ||
| NR_135314.1:n.1178C>T | ||
| NR_135315.1:n.931C>T | ||
| XM_006717819.3:c.950C>T | XP_006717882.1:p.Ala317Val | |
| XM_011539764.2:c.1031C>T | XP_011538066.1:p.Ala344Val | |
| XM_011539765.2:c.968C>T | XP_011538067.1:p.Ala323Val | |
| XM_011539766.2:c.950C>T | XP_011538068.1:p.Ala317Val | |
| XM_011539767.3:c.914C>T | XP_011538069.1:p.Ala305Val | |
| XR_945732.3:n.937C>T | ||
| XR_945733.2:n.874C>T | ||
| NM_000043.6:c.869C>T MANE Select | NP_000034.1:p.Ala290Val | |
| NM_001320619.2:c.*192C>T | NP_001307548.1:n.*192C>T | |
| NM_152871.4:c.806C>T | NP_690610.1:p.Ala269Val | |
| NM_152872.4:c.*181C>T | NP_690611.1:n.*181C>T | |
| NR_028033.4:n.776C>T | ||
| NR_028034.4:n.638C>T | ||
| NR_028035.4:n.701C>T | ||
| NR_028036.4:n.839C>T | ||
| NR_135313.2:n.756C>T | ||
| NR_135314.2:n.1035C>T | ||
| NR_135315.2:n.788C>T |