Linked Data
ClinVar Variation Id:
2117217
ClinVar RCV Id:
RCV003039091
dbSNP Id:
rs1272633083
gnomAD v3:
10-89014153-T-C
gnomAD v4:
10-89014153-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014153T>C , CM000672.2:g.89014153T>C | GRCh38 |
| NC_000010.10:g.90773910T>C , CM000672.1:g.90773910T>C | GRCh37 |
| NC_000010.9:g.90763890T>C | NCBI36 |
| NG_009089.2:g.28623T>C , LRG_134:g.28623T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1020T>C | ||
| ENST00000355740.8:c.*34T>C | ENSP00000347979.3:n.*34T>C | |
| ENST00000357339.7:c.648T>C | ENSP00000349896.2:p.Ala216= | |
| ENST00000371857.8:n.2256T>C | ||
| ENST00000460510.6:c.-7T>C | ENSP00000512812.1:n.-7T>C | |
| ENST00000466081.6:n.2360T>C | ||
| ENST00000477270.6:c.756T>C | ENSP00000512813.1:p.Ala252= | |
| ENST00000479522.6:c.*140T>C | ENSP00000424113.1:n.*140T>C | |
| ENST00000484444.6:c.*152T>C | ENSP00000420975.1:n.*152T>C | |
| ENST00000488877.6:c.602T>C | ENSP00000425159.1:n.602T>C | |
| ENST00000492756.7:c.*140T>C | ENSP00000422453.1:n.*140T>C | |
| ENST00000494799.6:c.-7T>C | ENSP00000512834.1:n.-7T>C | |
| ENST00000562983.3:c.-7T>C | ENSP00000512845.1:n.-7T>C | |
| ENST00000612663.6:c.*113T>C | ENSP00000477997.3:n.*113T>C | |
| ENST00000640140.2:n.856T>C | ||
| ENST00000640250.2:n.210T>C | ||
| ENST00000640681.2:n.815T>C | ||
| ENST00000696723.1:n.4344T>C | ||
| ENST00000696741.1:n.2349T>C | ||
| ENST00000696742.1:n.2076T>C | ||
| ENST00000696743.1:n.3479T>C | ||
| ENST00000696744.1:n.750T>C | ||
| ENST00000696767.1:n.1045T>C | ||
| ENST00000696768.1:c.*34T>C | ENSP00000512859.1:n.*34T>C | |
| ENST00000696769.1:n.2400T>C | ||
| ENST00000696771.1:c.-7T>C | ENSP00000512860.1:n.-7T>C | |
| ENST00000696772.1:n.2314T>C | ||
| ENST00000696773.1:n.2053T>C | ||
| ENST00000696774.1:n.5821T>C | ||
| ENST00000696776.1:c.804T>C | ENSP00000512861.1:p.Ala268= | |
| ENST00000696777.1:n.2119T>C | ||
| ENST00000696778.1:n.1147T>C | ||
| ENST00000696779.1:c.318T>C | ENSP00000512862.1:p.Ala106= | |
| ENST00000696780.1:c.741T>C | ENSP00000512863.1:p.Ala247= | |
| ENST00000696781.1:c.456T>C | ENSP00000512864.1:p.Ala152= | |
| ENST00000696782.1:c.*113T>C | ENSP00000512865.1:n.*113T>C | |
| ENST00000696783.1:n.2579T>C | ||
| ENST00000696992.1:n.1828T>C | ||
| ENST00000696995.1:n.4240T>C | ||
| ENST00000696996.1:n.2153T>C | ||
| ENST00000696997.1:c.*341T>C | ENSP00000513028.1:n.*341T>C | |
| ENST00000696998.1:n.1965T>C | ||
| ENST00000696999.1:c.-7T>C | ENSP00000513029.1:n.-7T>C | |
| ENST00000697035.1:c.*44T>C | ENSP00000513059.1:n.*44T>C | |
| ENST00000697036.1:c.*127T>C | ENSP00000513060.1:n.*127T>C | |
| ENST00000697037.1:n.746T>C | ||
| ENST00000697093.1:n.2947T>C | ||
| ENST00000697094.1:n.3294T>C | ||
| ENST00000697095.1:c.*1912T>C | ENSP00000513104.1:n.*1912T>C | |
| ENST00000697096.1:n.1844T>C | ||
| ENST00000697097.1:c.-7T>C | ENSP00000513105.1:n.-7T>C | |
| ENST00000562983.2:n.897T>C | ||
| ENST00000690268.1:c.792T>C | ENSP00000509810.1:p.Ala264= | |
| ENST00000355740.7:c.*37T>C | ENSP00000347979.3:n.*37T>C | |
| ENST00000612663.5:c.*113T>C | ENSP00000477997.3:n.*113T>C | |
| ENST00000640140.1:n.883T>C | ||
| ENST00000640250.1:n.210T>C | ||
| ENST00000640681.1:n.832T>C | ||
| ENST00000652046.1:c.711T>C MANE Select | ENSP00000498466.1:p.Ala237= | |
| ENST00000313771.9:n.1020T>C | ||
| ENST00000352159.8:c.*28T>C | ENSP00000345601.4:n.*28T>C | |
| ENST00000355279.2:c.686T>C | ENSP00000347426.2:n.686T>C | |
| ENST00000355740.6:c.711T>C | ENSP00000347979.2:p.Ala237= | |
| ENST00000357339.6:c.648T>C | ENSP00000349896.2:p.Ala216= | |
| ENST00000479522.5:c.*140T>C | ENSP00000424113.1:n.*140T>C | |
| ENST00000484444.5:c.*152T>C | ENSP00000420975.1:n.*152T>C | |
| ENST00000488877.5:c.*152T>C | ENSP00000425159.1:n.*152T>C | |
| ENST00000492756.5:c.539T>C | ENSP00000422453.1:n.539T>C | |
| ENST00000494410.5:c.*69T>C | ENSP00000423755.1:n.*69T>C | |
| ENST00000494799.5:n.618T>C | ||
| ENST00000612663.4:c.*58T>C | ENSP00000477997.2:n.*58T>C | |
| ENST00000615406.4:c.711T>C | ENSP00000484575.1:p.Ala237= | |
| ENST00000626542.2:c.709T>C | ENSP00000485876.1:p.Trp237Arg | |
| NM_000043.4:c.711T>C , LRG_134t1:c.711T>C | NP_000034.1:p.Ala237= | |
| NM_152871.2:c.648T>C | NP_690610.1:p.Ala216= | |
| NM_152872.2:c.*23T>C | NP_690611.1:n.*23T>C | |
| NR_028033.2:n.885T>C | ||
| NR_028034.2:n.747T>C | ||
| NR_028035.2:n.810T>C | ||
| NR_028036.2:n.948T>C | ||
| XM_006717819.2:c.792T>C | XP_006717882.1:p.Ala264= | |
| XM_011539764.1:c.873T>C | XP_011538066.1:p.Ala291= | |
| XM_011539765.1:c.810T>C | XP_011538067.1:p.Ala270= | |
| XM_011539766.1:c.792T>C | XP_011538068.1:p.Ala264= | |
| XM_011539767.1:c.756T>C | XP_011538069.1:p.Ala252= | |
| XR_945732.1:n.779T>C | ||
| XR_945733.1:n.716T>C | ||
| NM_000043.5:c.711T>C | NP_000034.1:p.Ala237= | |
| NM_001320619.1:c.*34T>C | NP_001307548.1:n.*34T>C | |
| NM_152871.3:c.648T>C | NP_690610.1:p.Ala216= | |
| NM_152872.3:c.*23T>C | NP_690611.1:n.*23T>C | |
| NR_028033.3:n.857T>C | ||
| NR_028034.3:n.719T>C | ||
| NR_028035.3:n.782T>C | ||
| NR_028036.3:n.920T>C | ||
| NR_135313.1:n.837T>C | ||
| NR_135314.1:n.1020T>C | ||
| NR_135315.1:n.773T>C | ||
| XM_006717819.3:c.792T>C | XP_006717882.1:p.Ala264= | |
| XM_011539764.2:c.873T>C | XP_011538066.1:p.Ala291= | |
| XM_011539765.2:c.810T>C | XP_011538067.1:p.Ala270= | |
| XM_011539766.2:c.792T>C | XP_011538068.1:p.Ala264= | |
| XM_011539767.3:c.756T>C | XP_011538069.1:p.Ala252= | |
| XR_945732.3:n.779T>C | ||
| XR_945733.2:n.716T>C | ||
| NM_000043.6:c.711T>C MANE Select | NP_000034.1:p.Ala237= | |
| NM_001320619.2:c.*34T>C | NP_001307548.1:n.*34T>C | |
| NM_152871.4:c.648T>C | NP_690610.1:p.Ala216= | |
| NM_152872.4:c.*23T>C | NP_690611.1:n.*23T>C | |
| NR_028033.4:n.618T>C | ||
| NR_028034.4:n.480T>C | ||
| NR_028035.4:n.543T>C | ||
| NR_028036.4:n.681T>C | ||
| NR_135313.2:n.598T>C | ||
| NR_135314.2:n.877T>C | ||
| NR_135315.2:n.630T>C |