Linked Data
ClinVar Variation Id:
536044
dbSNP Id:
rs1051502900
gnomAD v2:
16-2135246-C-T
gnomAD v3:
16-2085245-C-T
gnomAD v4:
16-2085245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085245C>T , CM000678.2:g.2085245C>T | GRCh38 |
| NC_000016.9:g.2135246C>T , CM000678.1:g.2135246C>T | GRCh37 |
| NC_000016.8:g.2075247C>T | NCBI36 |
| NG_005895.1:g.40940C>T , LRG_487:g.40940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2934C>T | ENSP00000455997.2:n.*2934C>T | |
| ENST00000642206.2:c.4432C>T | ENSP00000495146.2:p.Arg1478Trp | |
| ENST00000642365.2:c.4582C>T | ENSP00000495459.2:p.Arg1528Trp | |
| ENST00000644417.2:c.*4965C>T | ENSP00000493912.2:n.*4965C>T | |
| ENST00000646464.2:c.*7334C>T | ENSP00000496610.2:n.*7334C>T | |
| ENST00000219476.9:c.4585C>T MANE Select | ENSP00000219476.3:p.Arg1529Trp | |
| ENST00000350773.9:c.4516C>T | ENSP00000344383.4:p.Arg1506Trp | |
| ENST00000401874.7:c.4384C>T | ENSP00000384468.2:p.Arg1462Trp | |
| ENST00000568454.6:c.4417C>T | ENSP00000454487.1:p.Arg1473Trp | |
| ENST00000569110.2:c.808C>T | ||
| ENST00000569930.2:n.2467C>T | ||
| ENST00000642365.1:c.3239C>T | ||
| ENST00000642561.1:c.4456C>T | ENSP00000495099.1:p.Arg1486Trp | |
| ENST00000642728.1:n.767C>T | ||
| ENST00000642791.1:n.182C>T | ||
| ENST00000642797.1:c.4387C>T | ENSP00000493846.1:p.Arg1463Trp | |
| ENST00000642936.1:c.4453C>T | ENSP00000494514.1:p.Arg1485Trp | |
| ENST00000643088.1:c.4378C>T | ENSP00000494747.1:p.Arg1460Trp | |
| ENST00000643177.1:n.599C>T | ||
| ENST00000643426.1:n.2233C>T | ||
| ENST00000643946.1:c.4510C>T | ENSP00000495927.1:p.Arg1504Trp | |
| ENST00000644043.1:c.4456C>T | ENSP00000496262.1:p.Arg1486Trp | |
| ENST00000644278.1:n.67C>T | ||
| ENST00000644329.1:c.4384C>T | ENSP00000496611.1:p.Arg1462Trp | |
| ENST00000644335.1:c.4381C>T | ENSP00000496317.1:p.Arg1461Trp | |
| ENST00000644399.1:c.4506C>T | ||
| ENST00000645024.1:n.2669C>T | ||
| ENST00000646388.1:c.4579C>T | ENSP00000495921.1:p.Arg1527Trp | |
| ENST00000646634.1:n.3400C>T | ||
| ENST00000646674.1:n.1837C>T | ||
| ENST00000647042.1:n.1808C>T | ||
| ENST00000647180.1:n.1698C>T | ||
| ENST00000219476.7:c.4585C>T | ENSP00000219476.3:p.Arg1529Trp | |
| ENST00000350773.8:c.4516C>T | ENSP00000344383.4:p.Arg1506Trp | |
| ENST00000382538.10:c.4240C>T | ENSP00000371978.6:p.Arg1414Trp | |
| ENST00000401874.6:c.4384C>T | ENSP00000384468.2:p.Arg1462Trp | |
| ENST00000439117.6:c.*3752C>T | ENSP00000406980.2:n.*3752C>T | |
| ENST00000439673.6:c.4276C>T | ENSP00000399232.2:p.Arg1426Trp | |
| ENST00000497886.5:n.2343C>T | ||
| ENST00000568454.5:c.4417C>T | ENSP00000454487.1:p.Arg1473Trp | |
| ENST00000569110.1:c.767C>T | ||
| ENST00000569930.1:n.1700C>T | ||
| NM_000548.3:c.4585C>T , LRG_487t1:c.4585C>T | NP_000539.2:p.Arg1529Trp | |
| NM_001077183.1:c.4384C>T | NP_001070651.1:p.Arg1462Trp | |
| NM_001114382.1:c.4516C>T | NP_001107854.1:p.Arg1506Trp | |
| XM_005255529.3:c.4456C>T | XP_005255586.2:p.Arg1486Trp | |
| XM_005255531.3:c.4387C>T | XP_005255588.2:p.Arg1463Trp | |
| XM_011522636.1:c.4639C>T | XP_011520938.1:p.Arg1547Trp | |
| XM_011522637.1:c.4636C>T | XP_011520939.1:p.Arg1546Trp | |
| XM_011522638.1:c.4528C>T | XP_011520940.1:p.Arg1510Trp | |
| XM_011522639.1:c.4510C>T | XP_011520941.1:p.Arg1504Trp | |
| XM_011522640.1:c.4507C>T | XP_011520942.1:p.Arg1503Trp | |
| XM_011522641.1:c.4276C>T | XP_011520943.1:p.Arg1426Trp | |
| NM_000548.4:c.4585C>T | NP_000539.2:p.Arg1529Trp | |
| NM_001077183.2:c.4384C>T | NP_001070651.1:p.Arg1462Trp | |
| NM_001114382.2:c.4516C>T | NP_001107854.1:p.Arg1506Trp | |
| NM_001318827.1:c.4276C>T | NP_001305756.1:p.Arg1426Trp | |
| NM_001318829.1:c.4240C>T | NP_001305758.1:p.Arg1414Trp | |
| NM_001318831.1:c.3853C>T | NP_001305760.1:p.Arg1285Trp | |
| NM_001318832.1:c.4417C>T | NP_001305761.1:p.Arg1473Trp | |
| NM_001363528.1:c.4387C>T | NP_001350457.1:p.Arg1463Trp | |
| NM_021055.2:c.4456C>T | NP_066399.2:p.Arg1486Trp | |
| XM_005255531.4:c.4387C>T | XP_005255588.2:p.Arg1463Trp | |
| XM_011522636.2:c.4639C>T | XP_011520938.1:p.Arg1547Trp | |
| XM_011522637.2:c.4636C>T | XP_011520939.1:p.Arg1546Trp | |
| XM_011522638.2:c.4801C>T | XP_011520940.2:p.Arg1601Trp | |
| XM_011522639.2:c.4510C>T | XP_011520941.1:p.Arg1504Trp | |
| XM_011522640.2:c.4507C>T | XP_011520942.1:p.Arg1503Trp | |
| XM_017023615.1:c.4582C>T | XP_016879104.1:p.Arg1528Trp | |
| XM_017023616.1:c.4453C>T | XP_016879105.1:p.Arg1485Trp | |
| XM_017023617.1:c.4549C>T | XP_016879106.1:p.Arg1517Trp | |
| XM_017023618.1:c.3295C>T | XP_016879107.1:p.Arg1099Trp | |
| XM_024450413.1:c.4384C>T | XP_024306181.1:p.Arg1462Trp | |
| NM_000548.5:c.4585C>T MANE Select | NP_000539.2:p.Arg1529Trp | |
| NM_001370404.1:c.4453C>T | NP_001357333.1:p.Arg1485Trp | |
| NM_001370405.1:c.4456C>T | NP_001357334.1:p.Arg1486Trp | |
| NM_001077183.3:c.4384C>T | NP_001070651.1:p.Arg1462Trp | |
| NM_001114382.3:c.4516C>T | NP_001107854.1:p.Arg1506Trp | |
| NM_001318827.2:c.4276C>T | NP_001305756.1:p.Arg1426Trp | |
| NM_001318829.2:c.4240C>T | NP_001305758.1:p.Arg1414Trp | |
| NM_001318831.2:c.3853C>T | NP_001305760.1:p.Arg1285Trp | |
| NM_001318832.2:c.4417C>T | NP_001305761.1:p.Arg1473Trp | |
| NM_001363528.2:c.4387C>T | NP_001350457.1:p.Arg1463Trp | |
| NM_021055.3:c.4456C>T | NP_066399.2:p.Arg1486Trp |