Linked Data
ClinVar Variation Id:
468105
dbSNP Id:
rs769834772
gnomAD v2:
16-2135247-G-A
gnomAD v4:
16-2085246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085246G>A , CM000678.2:g.2085246G>A | GRCh38 |
| NC_000016.9:g.2135247G>A , CM000678.1:g.2135247G>A | GRCh37 |
| NC_000016.8:g.2075248G>A | NCBI36 |
| NG_005895.1:g.40941G>A , LRG_487:g.40941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2935G>A | ENSP00000455997.2:n.*2935G>A | |
| ENST00000642206.2:c.4433G>A | ENSP00000495146.2:p.Arg1478Gln | |
| ENST00000642365.2:c.4583G>A | ENSP00000495459.2:p.Arg1528Gln | |
| ENST00000644417.2:c.*4966G>A | ENSP00000493912.2:n.*4966G>A | |
| ENST00000646464.2:c.*7335G>A | ENSP00000496610.2:n.*7335G>A | |
| ENST00000219476.9:c.4586G>A MANE Select | ENSP00000219476.3:p.Arg1529Gln | |
| ENST00000350773.9:c.4517G>A | ENSP00000344383.4:p.Arg1506Gln | |
| ENST00000401874.7:c.4385G>A | ENSP00000384468.2:p.Arg1462Gln | |
| ENST00000568454.6:c.4418G>A | ENSP00000454487.1:p.Arg1473Gln | |
| ENST00000569110.2:c.809G>A | ||
| ENST00000569930.2:n.2468G>A | ||
| ENST00000642365.1:c.3240G>A | ||
| ENST00000642561.1:c.4457G>A | ENSP00000495099.1:p.Arg1486Gln | |
| ENST00000642728.1:n.768G>A | ||
| ENST00000642791.1:n.183G>A | ||
| ENST00000642797.1:c.4388G>A | ENSP00000493846.1:p.Arg1463Gln | |
| ENST00000642936.1:c.4454G>A | ENSP00000494514.1:p.Arg1485Gln | |
| ENST00000643088.1:c.4379G>A | ENSP00000494747.1:p.Arg1460Gln | |
| ENST00000643177.1:n.600G>A | ||
| ENST00000643426.1:n.2234G>A | ||
| ENST00000643946.1:c.4511G>A | ENSP00000495927.1:p.Arg1504Gln | |
| ENST00000644043.1:c.4457G>A | ENSP00000496262.1:p.Arg1486Gln | |
| ENST00000644278.1:n.68G>A | ||
| ENST00000644329.1:c.4385G>A | ENSP00000496611.1:p.Arg1462Gln | |
| ENST00000644335.1:c.4382G>A | ENSP00000496317.1:p.Arg1461Gln | |
| ENST00000644399.1:c.4507G>A | ||
| ENST00000645024.1:n.2670G>A | ||
| ENST00000646388.1:c.4580G>A | ENSP00000495921.1:p.Arg1527Gln | |
| ENST00000646634.1:n.3401G>A | ||
| ENST00000646674.1:n.1838G>A | ||
| ENST00000647042.1:n.1809G>A | ||
| ENST00000647180.1:n.1699G>A | ||
| ENST00000219476.7:c.4586G>A | ENSP00000219476.3:p.Arg1529Gln | |
| ENST00000350773.8:c.4517G>A | ENSP00000344383.4:p.Arg1506Gln | |
| ENST00000382538.10:c.4241G>A | ENSP00000371978.6:p.Arg1414Gln | |
| ENST00000401874.6:c.4385G>A | ENSP00000384468.2:p.Arg1462Gln | |
| ENST00000439117.6:c.*3753G>A | ENSP00000406980.2:n.*3753G>A | |
| ENST00000439673.6:c.4277G>A | ENSP00000399232.2:p.Arg1426Gln | |
| ENST00000497886.5:n.2344G>A | ||
| ENST00000568454.5:c.4418G>A | ENSP00000454487.1:p.Arg1473Gln | |
| ENST00000569110.1:c.768G>A | ||
| ENST00000569930.1:n.1701G>A | ||
| NM_000548.3:c.4586G>A , LRG_487t1:c.4586G>A | NP_000539.2:p.Arg1529Gln | |
| NM_001077183.1:c.4385G>A | NP_001070651.1:p.Arg1462Gln | |
| NM_001114382.1:c.4517G>A | NP_001107854.1:p.Arg1506Gln | |
| XM_005255529.3:c.4457G>A | XP_005255586.2:p.Arg1486Gln | |
| XM_005255531.3:c.4388G>A | XP_005255588.2:p.Arg1463Gln | |
| XM_011522636.1:c.4640G>A | XP_011520938.1:p.Arg1547Gln | |
| XM_011522637.1:c.4637G>A | XP_011520939.1:p.Arg1546Gln | |
| XM_011522638.1:c.4529G>A | XP_011520940.1:p.Arg1510Gln | |
| XM_011522639.1:c.4511G>A | XP_011520941.1:p.Arg1504Gln | |
| XM_011522640.1:c.4508G>A | XP_011520942.1:p.Arg1503Gln | |
| XM_011522641.1:c.4277G>A | XP_011520943.1:p.Arg1426Gln | |
| NM_000548.4:c.4586G>A | NP_000539.2:p.Arg1529Gln | |
| NM_001077183.2:c.4385G>A | NP_001070651.1:p.Arg1462Gln | |
| NM_001114382.2:c.4517G>A | NP_001107854.1:p.Arg1506Gln | |
| NM_001318827.1:c.4277G>A | NP_001305756.1:p.Arg1426Gln | |
| NM_001318829.1:c.4241G>A | NP_001305758.1:p.Arg1414Gln | |
| NM_001318831.1:c.3854G>A | NP_001305760.1:p.Arg1285Gln | |
| NM_001318832.1:c.4418G>A | NP_001305761.1:p.Arg1473Gln | |
| NM_001363528.1:c.4388G>A | NP_001350457.1:p.Arg1463Gln | |
| NM_021055.2:c.4457G>A | NP_066399.2:p.Arg1486Gln | |
| XM_005255531.4:c.4388G>A | XP_005255588.2:p.Arg1463Gln | |
| XM_011522636.2:c.4640G>A | XP_011520938.1:p.Arg1547Gln | |
| XM_011522637.2:c.4637G>A | XP_011520939.1:p.Arg1546Gln | |
| XM_011522638.2:c.4802G>A | XP_011520940.2:p.Arg1601Gln | |
| XM_011522639.2:c.4511G>A | XP_011520941.1:p.Arg1504Gln | |
| XM_011522640.2:c.4508G>A | XP_011520942.1:p.Arg1503Gln | |
| XM_017023615.1:c.4583G>A | XP_016879104.1:p.Arg1528Gln | |
| XM_017023616.1:c.4454G>A | XP_016879105.1:p.Arg1485Gln | |
| XM_017023617.1:c.4550G>A | XP_016879106.1:p.Arg1517Gln | |
| XM_017023618.1:c.3296G>A | XP_016879107.1:p.Arg1099Gln | |
| XM_024450413.1:c.4385G>A | XP_024306181.1:p.Arg1462Gln | |
| NM_000548.5:c.4586G>A MANE Select | NP_000539.2:p.Arg1529Gln | |
| NM_001370404.1:c.4454G>A | NP_001357333.1:p.Arg1485Gln | |
| NM_001370405.1:c.4457G>A | NP_001357334.1:p.Arg1486Gln | |
| NM_001077183.3:c.4385G>A | NP_001070651.1:p.Arg1462Gln | |
| NM_001114382.3:c.4517G>A | NP_001107854.1:p.Arg1506Gln | |
| NM_001318827.2:c.4277G>A | NP_001305756.1:p.Arg1426Gln | |
| NM_001318829.2:c.4241G>A | NP_001305758.1:p.Arg1414Gln | |
| NM_001318831.2:c.3854G>A | NP_001305760.1:p.Arg1285Gln | |
| NM_001318832.2:c.4418G>A | NP_001305761.1:p.Arg1473Gln | |
| NM_001363528.2:c.4388G>A | NP_001350457.1:p.Arg1463Gln | |
| NM_021055.3:c.4457G>A | NP_066399.2:p.Arg1486Gln |