Linked Data
ClinVar Variation Id:
207786
dbSNP Id:
rs760395277
ExAC:
16:2138253 G / A
gnomAD v2:
16-2138253-G-A
gnomAD v3:
16-2088252-G-A
gnomAD v4:
16-2088252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088252G>A , CM000678.2:g.2088252G>A | GRCh38 |
| NC_000016.9:g.2138253G>A , CM000678.1:g.2138253G>A | GRCh37 |
| NC_000016.8:g.2078254G>A | NCBI36 |
| NG_005895.1:g.43947G>A , LRG_487:g.43947G>A | |
| NG_008617.1:g.54969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3535G>A | ENSP00000455997.2:n.*3535G>A | |
| ENST00000642206.2:c.5033G>A | ENSP00000495146.2:p.Arg1678His | |
| ENST00000642365.2:c.5183G>A | ENSP00000495459.2:p.Arg1728His | |
| ENST00000644417.2:c.*5699G>A | ENSP00000493912.2:n.*5699G>A | |
| ENST00000646464.2:c.*7935G>A | ENSP00000496610.2:n.*7935G>A | |
| ENST00000219476.9:c.5186G>A MANE Select | ENSP00000219476.3:p.Arg1729His | |
| ENST00000350773.9:c.5117G>A | ENSP00000344383.4:p.Arg1706His | |
| ENST00000401874.7:c.4985G>A | ENSP00000384468.2:p.Arg1662His | |
| ENST00000568454.6:c.5018G>A | ENSP00000454487.1:p.Arg1673His | |
| ENST00000569110.2:c.1409G>A | ||
| ENST00000569930.2:n.3068G>A | ||
| ENST00000642365.1:c.3840G>A | ||
| ENST00000642561.1:c.5045G>A | ENSP00000495099.1:p.Arg1682His | |
| ENST00000642791.1:n.783G>A | ||
| ENST00000642797.1:c.4988G>A | ENSP00000493846.1:p.Arg1663His | |
| ENST00000642936.1:c.5054G>A | ENSP00000494514.1:p.Arg1685His | |
| ENST00000643088.1:c.4979G>A | ENSP00000494747.1:p.Arg1660His | |
| ENST00000643426.1:n.2834G>A | ||
| ENST00000643946.1:c.5111G>A | ENSP00000495927.1:p.Arg1704His | |
| ENST00000644043.1:c.5057G>A | ENSP00000496262.1:p.Arg1686His | |
| ENST00000644329.1:c.5072G>A | ENSP00000496611.1:p.Arg1691His | |
| ENST00000644335.1:c.4982G>A | ENSP00000496317.1:p.Arg1661His | |
| ENST00000644399.1:c.5107G>A | ||
| ENST00000645024.1:n.3270G>A | ||
| ENST00000646388.1:c.5180G>A | ENSP00000495921.1:p.Arg1727His | |
| ENST00000646634.1:n.4001G>A | ||
| ENST00000646674.1:n.2438G>A | ||
| ENST00000647042.1:n.2409G>A | ||
| ENST00000647180.1:n.2299G>A | ||
| ENST00000219476.7:c.5186G>A | ENSP00000219476.3:p.Arg1729His | |
| ENST00000350773.8:c.5117G>A | ENSP00000344383.4:p.Arg1706His | |
| ENST00000382538.10:c.4841G>A | ENSP00000371978.6:p.Arg1614His | |
| ENST00000401874.6:c.4985G>A | ENSP00000384468.2:p.Arg1662His | |
| ENST00000439117.6:c.*4353G>A | ENSP00000406980.2:n.*4353G>A | |
| ENST00000439673.6:c.4877G>A | ENSP00000399232.2:p.Arg1626His | |
| ENST00000497886.5:n.2909G>A | ||
| ENST00000568454.5:c.5018G>A | ENSP00000454487.1:p.Arg1673His | |
| ENST00000569110.1:c.1368G>A | ||
| ENST00000569930.1:n.2301G>A | ||
| NM_000548.3:c.5186G>A , LRG_487t1:c.5186G>A | NP_000539.2:p.Arg1729His | |
| NM_001077183.1:c.4985G>A | NP_001070651.1:p.Arg1662His | |
| NM_001114382.1:c.5117G>A | NP_001107854.1:p.Arg1706His | |
| XM_005255529.3:c.5057G>A | XP_005255586.2:p.Arg1686His | |
| XM_005255531.3:c.4988G>A | XP_005255588.2:p.Arg1663His | |
| XM_011522636.1:c.5240G>A | XP_011520938.1:p.Arg1747His | |
| XM_011522637.1:c.5237G>A | XP_011520939.1:p.Arg1746His | |
| XM_011522638.1:c.5129G>A | XP_011520940.1:p.Arg1710His | |
| XM_011522639.1:c.5111G>A | XP_011520941.1:p.Arg1704His | |
| XM_011522640.1:c.5108G>A | XP_011520942.1:p.Arg1703His | |
| XM_011522641.1:c.4877G>A | XP_011520943.1:p.Arg1626His | |
| NM_000548.4:c.5186G>A | NP_000539.2:p.Arg1729His | |
| NM_001077183.2:c.4985G>A | NP_001070651.1:p.Arg1662His | |
| NM_001114382.2:c.5117G>A | NP_001107854.1:p.Arg1706His | |
| NM_001318827.1:c.4877G>A | NP_001305756.1:p.Arg1626His | |
| NM_001318829.1:c.4841G>A | NP_001305758.1:p.Arg1614His | |
| NM_001318831.1:c.4454G>A | NP_001305760.1:p.Arg1485His | |
| NM_001318832.1:c.5018G>A | NP_001305761.1:p.Arg1673His | |
| NM_001363528.1:c.4988G>A | NP_001350457.1:p.Arg1663His | |
| NM_021055.2:c.5057G>A | NP_066399.2:p.Arg1686His | |
| XM_005255531.4:c.4988G>A | XP_005255588.2:p.Arg1663His | |
| XM_011522636.2:c.5240G>A | XP_011520938.1:p.Arg1747His | |
| XM_011522637.2:c.5237G>A | XP_011520939.1:p.Arg1746His | |
| XM_011522638.2:c.5402G>A | XP_011520940.2:p.Arg1801His | |
| XM_011522639.2:c.5111G>A | XP_011520941.1:p.Arg1704His | |
| XM_011522640.2:c.5108G>A | XP_011520942.1:p.Arg1703His | |
| XM_017023615.1:c.5183G>A | XP_016879104.1:p.Arg1728His | |
| XM_017023616.1:c.5054G>A | XP_016879105.1:p.Arg1685His | |
| XM_017023617.1:c.5150G>A | XP_016879106.1:p.Arg1717His | |
| XM_017023618.1:c.3896G>A | XP_016879107.1:p.Arg1299His | |
| XM_024450413.1:c.5072G>A | XP_024306181.1:p.Arg1691His | |
| NM_000548.5:c.5186G>A MANE Select | NP_000539.2:p.Arg1729His | |
| NM_001370404.1:c.5054G>A | NP_001357333.1:p.Arg1685His | |
| NM_001370405.1:c.5045G>A | NP_001357334.1:p.Arg1682His | |
| NM_001077183.3:c.4985G>A | NP_001070651.1:p.Arg1662His | |
| NM_001114382.3:c.5117G>A | NP_001107854.1:p.Arg1706His | |
| NM_001318827.2:c.4877G>A | NP_001305756.1:p.Arg1626His | |
| NM_001318829.2:c.4841G>A | NP_001305758.1:p.Arg1614His | |
| NM_001318831.2:c.4454G>A | NP_001305760.1:p.Arg1485His | |
| NM_001318832.2:c.5018G>A | NP_001305761.1:p.Arg1673His | |
| NM_001363528.2:c.4988G>A | NP_001350457.1:p.Arg1663His | |
| NM_021055.3:c.5057G>A | NP_066399.2:p.Arg1686His |