Linked Data
ClinVar Variation Id:
1684151
ClinVar RCV Id:
RCV002245151
dbSNP Id:
rs1214700896
MutSpliceDB:
CA377508901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89010538G>C , CM000672.2:g.89010538G>C | GRCh38 |
| NC_000010.10:g.90770295G>C , CM000672.1:g.90770295G>C | GRCh37 |
| NC_000010.9:g.90760275G>C | NCBI36 |
| NG_009089.2:g.25008G>C , LRG_134:g.25008G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313771.10:n.753-1G>C | ||
| ENST00000355740.8:c.444-1G>C | ENSP00000347979.3:n.444-1G>C | |
| ENST00000357339.7:c.444-1G>C | ENSP00000349896.2:n.444-1G>C | |
| ENST00000371857.8:n.654-1G>C | ||
| ENST00000460510.6:c.-274-1G>C | ENSP00000512812.1:n.-274-1G>C | |
| ENST00000466081.6:n.504-1G>C | ||
| ENST00000477270.6:c.489-1G>C | ENSP00000512813.1:n.489-1G>C | |
| ENST00000479522.6:c.197-1G>C | ENSP00000424113.1:n.197-1G>C | |
| ENST00000484444.6:c.197-1G>C | ENSP00000420975.1:n.197-1G>C | |
| ENST00000488877.6:c.335-1G>C | ENSP00000425159.1:n.335-1G>C | |
| ENST00000492756.7:c.335-1G>C | ENSP00000422453.1:n.335-1G>C | |
| ENST00000494799.6:c.-274-1G>C | ENSP00000512834.1:n.-274-1G>C | |
| ENST00000562983.3:c.-274-1G>C | ENSP00000512845.1:n.-274-1G>C | |
| ENST00000612663.6:c.444-1G>C | ENSP00000477997.3:n.444-1G>C | |
| ENST00000640140.2:n.589-1G>C | ||
| ENST00000640681.2:n.548-1G>C | ||
| ENST00000696723.1:n.4077-1G>C | ||
| ENST00000696741.1:n.747-1G>C | ||
| ENST00000696742.1:n.626-1G>C | ||
| ENST00000696743.1:n.616-1G>C | ||
| ENST00000696744.1:n.483-1G>C | ||
| ENST00000696767.1:n.626-1G>C | ||
| ENST00000696768.1:c.444-1G>C | ENSP00000512859.1:n.444-1G>C | |
| ENST00000696769.1:n.798-1G>C | ||
| ENST00000696770.1:n.3218G>C | ||
| ENST00000696771.1:c.-211-1G>C | ENSP00000512860.1:n.-211-1G>C | |
| ENST00000696772.1:n.610-1G>C | ||
| ENST00000696773.1:n.603-1G>C | ||
| ENST00000696774.1:n.2206G>C | ||
| ENST00000696776.1:c.537-1G>C | ENSP00000512861.1:n.537-1G>C | |
| ENST00000696777.1:n.517-1G>C | ||
| ENST00000696778.1:n.626-1G>C | ||
| ENST00000696779.1:c.197-1G>C | ENSP00000512862.1:n.197-1G>C | |
| ENST00000696780.1:c.537-1G>C | ENSP00000512863.1:n.537-1G>C | |
| ENST00000696781.1:c.335-1G>C | ENSP00000512864.1:n.335-1G>C | |
| ENST00000696782.1:c.444-1G>C | ENSP00000512865.1:n.444-1G>C | |
| ENST00000696783.1:n.976G>C | ||
| ENST00000696992.1:n.1561-1G>C | ||
| ENST00000696995.1:n.626-1G>C | ||
| ENST00000696996.1:n.625-1G>C | ||
| ENST00000696997.1:c.*74-1G>C | ENSP00000513028.1:n.*74-1G>C | |
| ENST00000696998.1:n.363-1G>C | ||
| ENST00000696999.1:c.-211-1G>C | ENSP00000513029.1:n.-211-1G>C | |
| ENST00000697035.1:c.444-1G>C | ENSP00000513059.1:n.444-1G>C | |
| ENST00000697036.1:c.335-1G>C | ENSP00000513060.1:n.335-1G>C | |
| ENST00000697037.1:n.479-1G>C | ||
| ENST00000697093.1:n.668-1G>C | ||
| ENST00000697094.1:n.583-1G>C | ||
| ENST00000697095.1:c.*1644G>C | ENSP00000513104.1:n.*1644G>C | |
| ENST00000697096.1:n.500-1G>C | ||
| ENST00000697097.1:c.-274-1G>C | ENSP00000513105.1:n.-274-1G>C | |
| ENST00000562983.2:n.630-1G>C | ||
| ENST00000690268.1:c.525-1G>C | ENSP00000509810.1:n.525-1G>C | |
| ENST00000355740.7:c.444-1G>C | ENSP00000347979.3:n.444-1G>C | |
| ENST00000612663.5:c.444-1G>C | ENSP00000477997.3:n.444-1G>C | |
| ENST00000640140.1:n.616-1G>C | ||
| ENST00000640681.1:n.565-1G>C | ||
| ENST00000652046.1:c.444-1G>C MANE Select | ENSP00000498466.1:n.444-1G>C | |
| ENST00000313771.9:n.753-1G>C | ||
| ENST00000352159.8:c.444-1G>C | ENSP00000345601.4:n.444-1G>C | |
| ENST00000355279.2:c.444-1G>C | ENSP00000347426.2:n.444-1G>C | |
| ENST00000355740.6:c.444-1G>C | ENSP00000347979.2:n.444-1G>C | |
| ENST00000357339.6:c.444-1G>C | ENSP00000349896.2:n.444-1G>C | |
| ENST00000371857.7:n.610-1G>C | ||
| ENST00000466081.5:n.504-1G>C | ||
| ENST00000477270.5:n.607-1G>C | ||
| ENST00000479522.5:c.197-1G>C | ENSP00000424113.1:n.197-1G>C | |
| ENST00000484444.5:c.197-1G>C | ENSP00000420975.1:n.197-1G>C | |
| ENST00000487314.1:n.593-1G>C | ||
| ENST00000488877.5:c.335-1G>C | ENSP00000425159.1:n.335-1G>C | |
| ENST00000492756.5:c.335-1G>C | ENSP00000422453.1:n.335-1G>C | |
| ENST00000494410.5:c.335-1G>C | ENSP00000423755.1:n.335-1G>C | |
| ENST00000494799.5:n.351-1G>C | ||
| ENST00000612663.4:c.444-1G>C | ENSP00000477997.2:n.444-1G>C | |
| ENST00000615406.4:c.444-1G>C | ENSP00000484575.1:n.444-1G>C | |
| ENST00000626542.2:c.444-1G>C | ENSP00000485876.1:n.444-1G>C | |
| NM_000043.4:c.444-1G>C , LRG_134t1:c.444-1G>C | NP_000034.1:n.444-1G>C | |
| NM_152871.2:c.444-1G>C | NP_690610.1:n.444-1G>C | |
| NM_152872.2:c.444-1G>C | NP_690611.1:n.444-1G>C | |
| NR_028033.2:n.681-1G>C | ||
| NR_028034.2:n.543-1G>C | ||
| NR_028035.2:n.543-1G>C | ||
| NR_028036.2:n.681-1G>C | ||
| XM_006717819.2:c.525-1G>C | XP_006717882.1:n.525-1G>C | |
| XM_011539764.1:c.606-1G>C | XP_011538066.1:n.606-1G>C | |
| XM_011539765.1:c.606-1G>C | XP_011538067.1:n.606-1G>C | |
| XM_011539766.1:c.525-1G>C | XP_011538068.1:n.525-1G>C | |
| XM_011539767.1:c.489-1G>C | XP_011538069.1:n.489-1G>C | |
| XR_945732.1:n.512-1G>C | ||
| XR_945733.1:n.512-1G>C | ||
| NM_000043.5:c.444-1G>C | NP_000034.1:n.444-1G>C | |
| NM_001320619.1:c.444-1G>C | NP_001307548.1:n.444-1G>C | |
| NM_152871.3:c.444-1G>C | NP_690610.1:n.444-1G>C | |
| NM_152872.3:c.444-1G>C | NP_690611.1:n.444-1G>C | |
| NR_028033.3:n.653-1G>C | ||
| NR_028034.3:n.515-1G>C | ||
| NR_028035.3:n.515-1G>C | ||
| NR_028036.3:n.653-1G>C | ||
| NR_135313.1:n.653-1G>C | ||
| NR_135314.1:n.753-1G>C | ||
| NR_135315.1:n.506-1G>C | ||
| XM_006717819.3:c.525-1G>C | XP_006717882.1:n.525-1G>C | |
| XM_011539764.2:c.606-1G>C | XP_011538066.1:n.606-1G>C | |
| XM_011539765.2:c.606-1G>C | XP_011538067.1:n.606-1G>C | |
| XM_011539766.2:c.525-1G>C | XP_011538068.1:n.525-1G>C | |
| XM_011539767.3:c.489-1G>C | XP_011538069.1:n.489-1G>C | |
| XR_945732.3:n.512-1G>C | ||
| XR_945733.2:n.512-1G>C | ||
| NM_000043.6:c.444-1G>C MANE Select | NP_000034.1:n.444-1G>C | |
| NM_001320619.2:c.444-1G>C | NP_001307548.1:n.444-1G>C | |
| NM_152871.4:c.444-1G>C | NP_690610.1:n.444-1G>C | |
| NM_152872.4:c.444-1G>C | NP_690611.1:n.444-1G>C | |
| NR_028033.4:n.414-1G>C | ||
| NR_028034.4:n.276-1G>C | ||
| NR_028035.4:n.276-1G>C | ||
| NR_028036.4:n.414-1G>C | ||
| NR_135313.2:n.414-1G>C | ||
| NR_135314.2:n.610-1G>C | ||
| NR_135315.2:n.363-1G>C |