Linked Data
ClinVar Variation Id:
1719923
ClinVar RCV Id:
RCV002305056
dbSNP Id:
rs757367051
ExAC:
10:90773945 T / C
gnomAD v2:
10-90773945-T-C
gnomAD v4:
10-89014188-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89014188T>C , CM000672.2:g.89014188T>C | GRCh38 |
| NC_000010.10:g.90773945T>C , CM000672.1:g.90773945T>C | GRCh37 |
| NC_000010.9:g.90763925T>C | NCBI36 |
| NG_009089.2:g.28658T>C , LRG_134:g.28658T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.1055T>C | ||
| ENST00000355740.8:c.*69T>C | ENSP00000347979.3:n.*69T>C | |
| ENST00000357339.7:c.683T>C | ENSP00000349896.2:p.Val228Ala | |
| ENST00000371857.8:n.2291T>C | ||
| ENST00000460510.6:c.29T>C | ENSP00000512812.1:p.Val10Ala | |
| ENST00000466081.6:n.2395T>C | ||
| ENST00000477270.6:c.791T>C | ENSP00000512813.1:p.Val264Ala | |
| ENST00000479522.6:c.*175T>C | ENSP00000424113.1:n.*175T>C | |
| ENST00000484444.6:c.*187T>C | ENSP00000420975.1:n.*187T>C | |
| ENST00000488877.6:c.637T>C | ENSP00000425159.1:n.637T>C | |
| ENST00000492756.7:c.*175T>C | ENSP00000422453.1:n.*175T>C | |
| ENST00000494799.6:c.29T>C | ENSP00000512834.1:p.Val10Ala | |
| ENST00000562983.3:c.29T>C | ENSP00000512845.1:p.Val10Ala | |
| ENST00000612663.6:c.*148T>C | ENSP00000477997.3:n.*148T>C | |
| ENST00000640140.2:n.891T>C | ||
| ENST00000640250.2:n.245T>C | ||
| ENST00000640681.2:n.850T>C | ||
| ENST00000696723.1:n.4379T>C | ||
| ENST00000696741.1:n.2384T>C | ||
| ENST00000696742.1:n.2111T>C | ||
| ENST00000696743.1:n.3514T>C | ||
| ENST00000696744.1:n.785T>C | ||
| ENST00000696767.1:n.1080T>C | ||
| ENST00000696768.1:c.*69T>C | ENSP00000512859.1:n.*69T>C | |
| ENST00000696769.1:n.2435T>C | ||
| ENST00000696771.1:c.29T>C | ENSP00000512860.1:p.Val10Ala | |
| ENST00000696772.1:n.2349T>C | ||
| ENST00000696773.1:n.2088T>C | ||
| ENST00000696774.1:n.5856T>C | ||
| ENST00000696776.1:c.839T>C | ENSP00000512861.1:p.Val280Ala | |
| ENST00000696777.1:n.2154T>C | ||
| ENST00000696778.1:n.1182T>C | ||
| ENST00000696779.1:c.353T>C | ENSP00000512862.1:p.Val118Ala | |
| ENST00000696780.1:c.776T>C | ENSP00000512863.1:p.Val259Ala | |
| ENST00000696781.1:c.491T>C | ENSP00000512864.1:p.Val164Ala | |
| ENST00000696782.1:c.*148T>C | ENSP00000512865.1:n.*148T>C | |
| ENST00000696783.1:n.2614T>C | ||
| ENST00000696992.1:n.1863T>C | ||
| ENST00000696995.1:n.4275T>C | ||
| ENST00000696996.1:n.2188T>C | ||
| ENST00000696997.1:c.*376T>C | ENSP00000513028.1:n.*376T>C | |
| ENST00000696998.1:n.2000T>C | ||
| ENST00000696999.1:c.29T>C | ENSP00000513029.1:p.Val10Ala | |
| ENST00000697035.1:c.*79T>C | ENSP00000513059.1:n.*79T>C | |
| ENST00000697036.1:c.*162T>C | ENSP00000513060.1:n.*162T>C | |
| ENST00000697037.1:n.781T>C | ||
| ENST00000697093.1:n.2982T>C | ||
| ENST00000697094.1:n.3329T>C | ||
| ENST00000697095.1:c.*1947T>C | ENSP00000513104.1:n.*1947T>C | |
| ENST00000697096.1:n.1879T>C | ||
| ENST00000697097.1:c.29T>C | ENSP00000513105.1:p.Val10Ala | |
| ENST00000562983.2:n.932T>C | ||
| ENST00000690268.1:c.827T>C | ENSP00000509810.1:p.Val276Ala | |
| ENST00000355740.7:c.*72T>C | ENSP00000347979.3:n.*72T>C | |
| ENST00000612663.5:c.*148T>C | ENSP00000477997.3:n.*148T>C | |
| ENST00000640140.1:n.918T>C | ||
| ENST00000640250.1:n.245T>C | ||
| ENST00000640681.1:n.867T>C | ||
| ENST00000652046.1:c.746T>C MANE Select | ENSP00000498466.1:p.Val249Ala | |
| ENST00000352159.8:c.*63T>C | ENSP00000345601.4:n.*63T>C | |
| ENST00000355279.2:c.721T>C | ENSP00000347426.2:n.721T>C | |
| ENST00000355740.6:c.746T>C | ENSP00000347979.2:p.Val249Ala | |
| ENST00000357339.6:c.683T>C | ENSP00000349896.2:p.Val228Ala | |
| ENST00000479522.5:c.*175T>C | ENSP00000424113.1:n.*175T>C | |
| ENST00000484444.5:c.*187T>C | ENSP00000420975.1:n.*187T>C | |
| ENST00000488877.5:c.*187T>C | ENSP00000425159.1:n.*187T>C | |
| ENST00000492756.5:c.574T>C | ENSP00000422453.1:n.574T>C | |
| ENST00000494410.5:c.*104T>C | ENSP00000423755.1:n.*104T>C | |
| ENST00000494799.5:n.653T>C | ||
| ENST00000612663.4:c.*93T>C | ENSP00000477997.2:n.*93T>C | |
| ENST00000615406.4:c.746T>C | ENSP00000484575.1:p.Val249Ala | |
| NM_000043.4:c.746T>C , LRG_134t1:c.746T>C | NP_000034.1:p.Val249Ala | |
| NM_152871.2:c.683T>C | NP_690610.1:p.Val228Ala | |
| NM_152872.2:c.*58T>C | NP_690611.1:n.*58T>C | |
| NR_028033.2:n.920T>C | ||
| NR_028034.2:n.782T>C | ||
| NR_028035.2:n.845T>C | ||
| NR_028036.2:n.983T>C | ||
| XM_006717819.2:c.827T>C | XP_006717882.1:p.Val276Ala | |
| XM_011539764.1:c.908T>C | XP_011538066.1:p.Val303Ala | |
| XM_011539765.1:c.845T>C | XP_011538067.1:p.Val282Ala | |
| XM_011539766.1:c.827T>C | XP_011538068.1:p.Val276Ala | |
| XM_011539767.1:c.791T>C | XP_011538069.1:p.Val264Ala | |
| XR_945732.1:n.814T>C | ||
| XR_945733.1:n.751T>C | ||
| NM_000043.5:c.746T>C | NP_000034.1:p.Val249Ala | |
| NM_001320619.1:c.*69T>C | NP_001307548.1:n.*69T>C | |
| NM_152871.3:c.683T>C | NP_690610.1:p.Val228Ala | |
| NM_152872.3:c.*58T>C | NP_690611.1:n.*58T>C | |
| NR_028033.3:n.892T>C | ||
| NR_028034.3:n.754T>C | ||
| NR_028035.3:n.817T>C | ||
| NR_028036.3:n.955T>C | ||
| NR_135313.1:n.872T>C | ||
| NR_135314.1:n.1055T>C | ||
| NR_135315.1:n.808T>C | ||
| XM_006717819.3:c.827T>C | XP_006717882.1:p.Val276Ala | |
| XM_011539764.2:c.908T>C | XP_011538066.1:p.Val303Ala | |
| XM_011539765.2:c.845T>C | XP_011538067.1:p.Val282Ala | |
| XM_011539766.2:c.827T>C | XP_011538068.1:p.Val276Ala | |
| XM_011539767.3:c.791T>C | XP_011538069.1:p.Val264Ala | |
| XR_945732.3:n.814T>C | ||
| XR_945733.2:n.751T>C | ||
| NM_000043.6:c.746T>C MANE Select | NP_000034.1:p.Val249Ala | |
| NM_001320619.2:c.*69T>C | NP_001307548.1:n.*69T>C | |
| NM_152871.4:c.683T>C | NP_690610.1:p.Val228Ala | |
| NM_152872.4:c.*58T>C | NP_690611.1:n.*58T>C | |
| NR_028033.4:n.653T>C | ||
| NR_028034.4:n.515T>C | ||
| NR_028035.4:n.578T>C | ||
| NR_028036.4:n.716T>C | ||
| NR_135313.2:n.633T>C | ||
| NR_135314.2:n.912T>C | ||
| NR_135315.2:n.665T>C |