Linked Data
ClinVar Variation Id:
301520
dbSNP Id:
rs5030766
ExAC:
10:90750600 A / G
gnomAD v2:
10-90750600-A-G
gnomAD v3:
10-88990843-A-G
gnomAD v4:
10-88990843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88990843A>G , CM000672.2:g.88990843A>G | GRCh38 |
| NC_000010.10:g.90750600A>G , CM000672.1:g.90750600A>G | GRCh37 |
| NC_000010.9:g.90740580A>G | NCBI36 |
| NG_009089.2:g.5313A>G , LRG_134:g.5313A>G | |
| NG_011541.1:g.5548T>C , LRG_781:g.5548T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.-24+96T>C (ACTA2) | ENSP00000396730.2:n.-24+96T>C | |
| ENST00000458159.6:c.-24+179T>C (ACTA2) | ENSP00000398239.2:n.-24+179T>C | |
| ENST00000355740.8:c.-34A>G (FAS) | ENSP00000347979.3:n.-34A>G | |
| ENST00000357339.7:c.-34A>G (FAS) | ENSP00000349896.2:n.-34A>G | |
| ENST00000479522.6:c.-34A>G (FAS) | ENSP00000424113.1:n.-34A>G | |
| ENST00000492756.7:c.-34A>G (FAS) | ENSP00000422453.1:n.-34A>G | |
| ENST00000562983.3:c.-858A>G (FAS) | ENSP00000512845.1:n.-858A>G | |
| ENST00000612663.6:c.-34A>G (FAS) | ENSP00000477997.3:n.-34A>G | |
| ENST00000696723.1:n.3663+1264A>G (FAS) | ||
| ENST00000696741.1:n.270A>G (FAS) | ||
| ENST00000696742.1:n.149A>G (FAS) | ||
| ENST00000696743.1:n.139A>G (FAS) | ||
| ENST00000696767.1:n.149A>G (FAS) | ||
| ENST00000696768.1:c.-34A>G (FAS) | ENSP00000512859.1:n.-34A>G | |
| ENST00000696774.1:n.189A>G (FAS) | ||
| ENST00000696775.1:n.149A>G (FAS) | ||
| ENST00000696776.1:c.-34A>G (FAS) | ENSP00000512861.1:n.-34A>G | |
| ENST00000696777.1:n.149A>G (FAS) | ||
| ENST00000696778.1:n.149A>G (FAS) | ||
| ENST00000696779.1:c.-34A>G (FAS) | ENSP00000512862.1:n.-34A>G | |
| ENST00000696780.1:c.-34A>G (FAS) | ENSP00000512863.1:n.-34A>G | |
| ENST00000696781.1:c.-34A>G (FAS) | ENSP00000512864.1:n.-34A>G | |
| ENST00000696782.1:c.-34A>G (FAS) | ENSP00000512865.1:n.-34A>G | |
| ENST00000696992.1:n.1147+1264A>G (FAS) | ||
| ENST00000696993.1:n.149A>G (FAS) | ||
| ENST00000696994.1:n.149A>G (FAS) | ||
| ENST00000696995.1:n.149A>G (FAS) | ||
| ENST00000696996.1:n.148A>G (FAS) | ||
| ENST00000696997.1:c.-34A>G (FAS) | ENSP00000513028.1:n.-34A>G | |
| ENST00000697035.1:c.-34A>G (FAS) | ENSP00000513059.1:n.-34A>G | |
| ENST00000697036.1:c.-34A>G (FAS) | ENSP00000513060.1:n.-34A>G | |
| ENST00000697093.1:n.191A>G (FAS) | ||
| ENST00000697094.1:n.106A>G (FAS) | ||
| ENST00000697095.1:c.-34A>G (FAS) | ENSP00000513104.1:n.-34A>G | |
| ENST00000697096.1:n.23A>G (FAS) | ||
| ENST00000562983.2:n.46A>G (FAS) | ||
| ENST00000690268.1:c.111+1264A>G (FAS) | ENSP00000509810.1:n.111+1264A>G | |
| ENST00000355740.7:c.-34A>G (FAS) | ENSP00000347979.3:n.-34A>G | |
| ENST00000612663.5:c.-34A>G (FAS) | ENSP00000477997.3:n.-34A>G | |
| ENST00000652046.1:c.-34A>G (FAS) MANE Select | ENSP00000498466.1:n.-34A>G | |
| ENST00000352159.8:c.-34A>G (FAS) | ENSP00000345601.4:n.-34A>G | |
| ENST00000355740.6:c.-34A>G (FAS) | ENSP00000347979.2:n.-34A>G | |
| ENST00000357339.6:c.-34A>G (FAS) | ENSP00000349896.2:n.-34A>G | |
| ENST00000415557.1:c.-24+96T>C (ACTA2) | ENSP00000396730.1:n.-24+96T>C | |
| ENST00000458159.5:c.-24+179T>C (ACTA2) | ENSP00000398239.1:n.-24+179T>C | |
| ENST00000458208.5:c.-24+96T>C (ACTA2) | ENSP00000402373.1:n.-24+96T>C | |
| ENST00000484444.5:c.-34A>G (FAS) | ENSP00000420975.1:n.-34A>G | |
| ENST00000612663.4:c.-34A>G (FAS) | ENSP00000477997.2:n.-34A>G | |
| ENST00000615406.4:c.-34A>G (FAS) | ENSP00000484575.1:n.-34A>G | |
| ENST00000626542.2:c.-34A>G (FAS) | ENSP00000485876.1:n.-34A>G | |
| NM_000043.4:c.-34A>G , LRG_134t1:c.-34A>G (FAS) | NP_000034.1:n.-34A>G | |
| NM_001141945.1:c.-24+96T>C , LRG_781t2:c.-24+96T>C (ACTA2) | NP_001135417.1:n.-24+96T>C | |
| NM_152871.2:c.-34A>G (FAS) | NP_690610.1:n.-34A>G | |
| NM_152872.2:c.-34A>G (FAS) | NP_690611.1:n.-34A>G | |
| NR_028033.2:n.313A>G (FAS) | ||
| NR_028034.2:n.313A>G (FAS) | ||
| NR_028035.2:n.313A>G (FAS) | ||
| NR_028036.2:n.313A>G (FAS) | ||
| XM_006717819.2:c.111+1264A>G (FAS) | XP_006717882.1:n.111+1264A>G | |
| XM_011539764.1:c.192+1264A>G (FAS) | XP_011538066.1:n.192+1264A>G | |
| XM_011539765.1:c.192+1264A>G (FAS) | XP_011538067.1:n.192+1264A>G | |
| XM_011539766.1:c.111+1264A>G (FAS) | XP_011538068.1:n.111+1264A>G | |
| XM_011540016.1:c.-24+179T>C (ACTA2) | XP_011538318.1:n.-24+179T>C | |
| XR_945732.1:n.207+1264A>G (FAS) | ||
| XR_945733.1:n.207+1264A>G (FAS) | ||
| NM_000043.5:c.-34A>G (FAS) | NP_000034.1:n.-34A>G | |
| NM_001141945.2:c.-24+96T>C (ACTA2) | NP_001135417.1:n.-24+96T>C | |
| NM_001320619.1:c.-34A>G (FAS) | NP_001307548.1:n.-34A>G | |
| NM_001320855.1:c.-24+179T>C (ACTA2) | NP_001307784.1:n.-24+179T>C | |
| NM_152871.3:c.-34A>G (FAS) | NP_690610.1:n.-34A>G | |
| NM_152872.3:c.-34A>G (FAS) | NP_690611.1:n.-34A>G | |
| NR_028033.3:n.285A>G (FAS) | ||
| NR_028034.3:n.285A>G (FAS) | ||
| NR_028035.3:n.285A>G (FAS) | ||
| NR_028036.3:n.285A>G (FAS) | ||
| NR_135313.1:n.285A>G (FAS) | ||
| XM_006717819.3:c.111+1264A>G (FAS) | XP_006717882.1:n.111+1264A>G | |
| XM_011539764.2:c.192+1264A>G (FAS) | XP_011538066.1:n.192+1264A>G | |
| XM_011539765.2:c.192+1264A>G (FAS) | XP_011538067.1:n.192+1264A>G | |
| XM_011539766.2:c.111+1264A>G (FAS) | XP_011538068.1:n.111+1264A>G | |
| XR_945732.3:n.207+1264A>G (FAS) | ||
| XR_945733.2:n.207+1264A>G (FAS) | ||
| NM_000043.6:c.-34A>G (FAS) MANE Select | NP_000034.1:n.-34A>G | |
| NM_001320619.2:c.-34A>G (FAS) | NP_001307548.1:n.-34A>G | |
| NM_152871.4:c.-34A>G (FAS) | NP_690610.1:n.-34A>G | |
| NM_152872.4:c.-34A>G (FAS) | NP_690611.1:n.-34A>G | |
| NR_028033.4:n.46A>G (FAS) | ||
| NR_028034.4:n.46A>G (FAS) | ||
| NR_028035.4:n.46A>G (FAS) | ||
| NR_028036.4:n.46A>G (FAS) | ||
| NR_135313.2:n.46A>G (FAS) |