Linked Data
ClinVar Variation Id:
260031
dbSNP Id:
rs188811451
ExAC:
11:1947946 C / T
gnomAD v2:
11-1947946-C-T
gnomAD v3:
11-1926716-C-T
gnomAD v4:
11-1926716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1926716C>T , CM000673.2:g.1926716C>T | GRCh38 |
| NC_000011.9:g.1947946C>T , CM000673.1:g.1947946C>T | GRCh37 |
| NC_000011.8:g.1904522C>T | NCBI36 |
| NG_013085.1:g.12148C>T | |
| NG_013085.2:g.12148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706488.1:c.100+235C>T | ENSP00000516410.1:n.100+235C>T | |
| ENST00000278317.11:c.82+7C>T MANE Select | ENSP00000278317.6:n.82+7C>T | |
| ENST00000381558.6:c.82+7C>T | ENSP00000370970.1:n.82+7C>T | |
| ENST00000641119.1:c.100+235C>T | ENSP00000492914.1:n.100+235C>T | |
| ENST00000641225.1:c.-99+1600C>T | ENSP00000493372.1:n.-99+1600C>T | |
| ENST00000641787.1:c.82+7C>T | ENSP00000493331.1:n.82+7C>T | |
| ENST00000278317.10:c.82+7C>T | ENSP00000278317.6:n.82+7C>T | |
| ENST00000344578.8:c.67+1600C>T | ENSP00000344870.4:n.67+1600C>T | |
| ENST00000381557.6:c.64+7C>T | ENSP00000370969.2:n.64+7C>T | |
| ENST00000381558.5:c.82+7C>T | ENSP00000370970.1:n.82+7C>T | |
| ENST00000381563.8:c.115+7C>T | ENSP00000370975.4:n.115+7C>T | |
| ENST00000381579.7:c.82+7C>T | ENSP00000370991.3:n.82+7C>T | |
| ENST00000381589.7:c.100+235C>T | ENSP00000371001.3:n.100+235C>T | |
| ENST00000397301.5:c.115+7C>T | ENSP00000380468.1:n.115+7C>T | |
| ENST00000397304.6:c.49+1600C>T | ENSP00000380471.2:n.49+1600C>T | |
| ENST00000446240.1:c.49+1600C>T | ENSP00000413203.1:n.49+1600C>T | |
| ENST00000453458.5:c.50-3094C>T | ENSP00000415614.1:n.50-3094C>T | |
| ENST00000492075.5:n.247+7C>T | ||
| NM_001042780.2:c.82+7C>T | NP_001036245.1:n.82+7C>T | |
| NM_001042781.2:c.100+235C>T | NP_001036246.1:n.100+235C>T | |
| NM_001042782.2:c.82+7C>T | NP_001036247.1:n.82+7C>T | |
| NM_001297646.1:c.82+7C>T | NP_001284575.1:n.82+7C>T | |
| NM_006757.3:c.82+7C>T | NP_006748.1:n.82+7C>T | |
| XM_006718290.2:c.115+7C>T | XP_006718353.1:n.115+7C>T | |
| XM_006718291.2:c.103+7C>T | XP_006718354.1:n.103+7C>T | |
| XM_006718292.2:c.94+7C>T | XP_006718355.1:n.94+7C>T | |
| XM_006718293.1:c.115+7C>T | XP_006718356.1:n.115+7C>T | |
| XM_006718294.2:c.115+7C>T | XP_006718357.1:n.115+7C>T | |
| XM_006718295.2:c.88+1440C>T | XP_006718358.1:n.88+1440C>T | |
| XM_006718296.2:c.103+7C>T | XP_006718359.1:n.103+7C>T | |
| XM_006718297.2:c.94+7C>T | XP_006718360.1:n.94+7C>T | |
| XM_006718298.2:c.88+1440C>T | XP_006718361.1:n.88+1440C>T | |
| XM_006718299.1:c.79+235C>T | XP_006718362.1:n.79+235C>T | |
| XM_006718300.2:c.67+1600C>T | XP_006718363.1:n.67+1600C>T | |
| XM_006718301.2:c.67+1600C>T | XP_006718364.1:n.67+1600C>T | |
| XM_006718302.2:c.50-3094C>T | XP_006718365.1:n.50-3094C>T | |
| XM_011520342.1:c.115+7C>T | XP_011518644.1:n.115+7C>T | |
| XM_011520343.1:c.115+7C>T | XP_011518645.1:n.115+7C>T | |
| NM_001363561.1:c.115+7C>T | NP_001350490.1:n.115+7C>T | |
| XM_006718290.3:c.115+7C>T | XP_006718353.1:n.115+7C>T | |
| XM_006718294.3:c.115+7C>T | XP_006718357.1:n.115+7C>T | |
| XM_006718296.3:c.103+7C>T | XP_006718359.1:n.103+7C>T | |
| XM_006718299.2:c.79+235C>T | XP_006718362.1:n.79+235C>T | |
| XM_006718300.3:c.67+1600C>T | XP_006718363.1:n.67+1600C>T | |
| XM_006718302.3:c.50-3094C>T | XP_006718365.1:n.50-3094C>T | |
| XM_011520343.2:c.115+7C>T | XP_011518645.1:n.115+7C>T | |
| XM_017018205.1:c.100+235C>T | XP_016873694.1:n.100+235C>T | |
| XM_017018206.1:c.115+7C>T | XP_016873695.1:n.115+7C>T | |
| XM_017018207.1:c.103+7C>T | XP_016873696.1:n.103+7C>T | |
| XM_017018208.1:c.94+7C>T | XP_016873697.1:n.94+7C>T | |
| XM_017018209.1:c.103+7C>T | XP_016873698.1:n.103+7C>T | |
| XM_017018210.1:c.94+7C>T | XP_016873699.1:n.94+7C>T | |
| XM_017018211.1:c.88+1440C>T | XP_016873700.1:n.88+1440C>T | |
| XM_017018212.1:c.85+7C>T | XP_016873701.1:n.85+7C>T | |
| XM_017018213.1:c.70+1440C>T | XP_016873702.1:n.70+1440C>T | |
| XM_017018214.1:c.67+1600C>T | XP_016873703.1:n.67+1600C>T | |
| XM_017018215.1:c.61+235C>T | XP_016873704.1:n.61+235C>T | |
| XM_017018216.1:c.97+7C>T | XP_016873705.1:n.97+7C>T | |
| XM_017018217.1:c.76+7C>T | XP_016873706.1:n.76+7C>T | |
| XM_017018218.1:c.64+7C>T | XP_016873707.1:n.64+7C>T | |
| XM_017018219.1:c.49+1600C>T | XP_016873708.1:n.49+1600C>T | |
| XM_024448669.1:c.95+240C>T | XP_024304437.1:n.95+240C>T | |
| XM_024448670.1:c.82+235C>T | XP_024304438.1:n.82+235C>T | |
| XM_024448671.1:c.74+240C>T | XP_024304439.1:n.74+240C>T | |
| XM_024448672.1:c.56+240C>T | XP_024304440.1:n.56+240C>T | |
| NM_001367842.1:c.100+235C>T | NP_001354771.1:n.100+235C>T | |
| NM_001367843.1:c.100+235C>T | NP_001354772.1:n.100+235C>T | |
| NM_001367844.1:c.82+7C>T | NP_001354773.1:n.82+7C>T | |
| NM_001367845.1:c.82+235C>T | NP_001354774.1:n.82+235C>T | |
| NM_001367846.1:c.115+7C>T | NP_001354775.1:n.115+7C>T | |
| NM_001367847.1:c.115+7C>T | NP_001354776.1:n.115+7C>T | |
| NM_001367848.1:c.103+7C>T | NP_001354777.1:n.103+7C>T | |
| NM_001367849.1:c.70+1440C>T | NP_001354778.1:n.70+1440C>T | |
| NM_001367850.1:c.50-3094C>T | NP_001354779.1:n.50-3094C>T | |
| NM_001367851.1:c.-98-3094C>T | NP_001354780.1:n.-98-3094C>T | |
| NM_001367852.1:c.-99+1600C>T | NP_001354781.1:n.-99+1600C>T | |
| NM_006757.4:c.82+7C>T MANE Select | NP_006748.1:n.82+7C>T | |
| NM_001042780.3:c.82+7C>T | NP_001036245.1:n.82+7C>T | |
| NM_001042781.3:c.100+235C>T | NP_001036246.1:n.100+235C>T | |
| NM_001042782.3:c.82+7C>T | NP_001036247.1:n.82+7C>T | |
| NM_001297646.2:c.82+7C>T | NP_001284575.1:n.82+7C>T | |
| NM_001363561.2:c.115+7C>T | NP_001350490.1:n.115+7C>T |