Linked Data
ClinVar Variation Id:
207760
dbSNP Id:
rs373365980
ExAC:
16:2138319 G / A
gnomAD v2:
16-2138319-G-A
gnomAD v3:
16-2088318-G-A
gnomAD v4:
16-2088318-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088318G>A , CM000678.2:g.2088318G>A | GRCh38 |
| NC_000016.9:g.2138319G>A , CM000678.1:g.2138319G>A | GRCh37 |
| NC_000016.8:g.2078320G>A | NCBI36 |
| NG_005895.1:g.44013G>A , LRG_487:g.44013G>A | |
| NG_008617.1:g.54903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3601G>A | ENSP00000455997.2:n.*3601G>A | |
| ENST00000642206.2:c.5099G>A | ENSP00000495146.2:p.Arg1700His | |
| ENST00000642365.2:c.5249G>A | ENSP00000495459.2:p.Arg1750His | |
| ENST00000644417.2:c.*5765G>A | ENSP00000493912.2:n.*5765G>A | |
| ENST00000646464.2:c.*8001G>A | ENSP00000496610.2:n.*8001G>A | |
| ENST00000219476.9:c.5252G>A MANE Select | ENSP00000219476.3:p.Arg1751His | |
| ENST00000350773.9:c.5183G>A | ENSP00000344383.4:p.Arg1728His | |
| ENST00000401874.7:c.5051G>A | ENSP00000384468.2:p.Arg1684His | |
| ENST00000568454.6:c.5084G>A | ENSP00000454487.1:p.Arg1695His | |
| ENST00000569110.2:c.1475G>A | ||
| ENST00000569930.2:n.3134G>A | ||
| ENST00000642365.1:c.3906G>A | ||
| ENST00000642561.1:c.5111G>A | ENSP00000495099.1:p.Arg1704His | |
| ENST00000642791.1:n.849G>A | ||
| ENST00000642797.1:c.5054G>A | ENSP00000493846.1:p.Arg1685His | |
| ENST00000642936.1:c.5120G>A | ENSP00000494514.1:p.Arg1707His | |
| ENST00000643088.1:c.5045G>A | ENSP00000494747.1:p.Arg1682His | |
| ENST00000643426.1:n.2900G>A | ||
| ENST00000643946.1:c.5177G>A | ENSP00000495927.1:p.Arg1726His | |
| ENST00000644043.1:c.5123G>A | ENSP00000496262.1:p.Arg1708His | |
| ENST00000644329.1:c.5138G>A | ENSP00000496611.1:p.Arg1713His | |
| ENST00000644335.1:c.5048G>A | ENSP00000496317.1:p.Arg1683His | |
| ENST00000644399.1:c.5173G>A | ||
| ENST00000645024.1:n.3336G>A | ||
| ENST00000646388.1:c.5246G>A | ENSP00000495921.1:p.Arg1749His | |
| ENST00000646634.1:n.4067G>A | ||
| ENST00000646674.1:n.2504G>A | ||
| ENST00000647042.1:n.2475G>A | ||
| ENST00000647180.1:n.2365G>A | ||
| ENST00000219476.7:c.5252G>A | ENSP00000219476.3:p.Arg1751His | |
| ENST00000350773.8:c.5183G>A | ENSP00000344383.4:p.Arg1728His | |
| ENST00000382538.10:c.4907G>A | ENSP00000371978.6:p.Arg1636His | |
| ENST00000401874.6:c.5051G>A | ENSP00000384468.2:p.Arg1684His | |
| ENST00000439117.6:c.*4419G>A | ENSP00000406980.2:n.*4419G>A | |
| ENST00000439673.6:c.4943G>A | ENSP00000399232.2:p.Arg1648His | |
| ENST00000497886.5:n.2975G>A | ||
| ENST00000568454.5:c.5084G>A | ENSP00000454487.1:p.Arg1695His | |
| ENST00000569110.1:c.1434G>A | ||
| ENST00000569930.1:n.2367G>A | ||
| NM_000548.3:c.5252G>A , LRG_487t1:c.5252G>A | NP_000539.2:p.Arg1751His | |
| NM_001077183.1:c.5051G>A | NP_001070651.1:p.Arg1684His | |
| NM_001114382.1:c.5183G>A | NP_001107854.1:p.Arg1728His | |
| XM_005255529.3:c.5123G>A | XP_005255586.2:p.Arg1708His | |
| XM_005255531.3:c.5054G>A | XP_005255588.2:p.Arg1685His | |
| XM_011522636.1:c.5306G>A | XP_011520938.1:p.Arg1769His | |
| XM_011522637.1:c.5303G>A | XP_011520939.1:p.Arg1768His | |
| XM_011522638.1:c.5195G>A | XP_011520940.1:p.Arg1732His | |
| XM_011522639.1:c.5177G>A | XP_011520941.1:p.Arg1726His | |
| XM_011522640.1:c.5174G>A | XP_011520942.1:p.Arg1725His | |
| XM_011522641.1:c.4943G>A | XP_011520943.1:p.Arg1648His | |
| NM_000548.4:c.5252G>A | NP_000539.2:p.Arg1751His | |
| NM_001077183.2:c.5051G>A | NP_001070651.1:p.Arg1684His | |
| NM_001114382.2:c.5183G>A | NP_001107854.1:p.Arg1728His | |
| NM_001318827.1:c.4943G>A | NP_001305756.1:p.Arg1648His | |
| NM_001318829.1:c.4907G>A | NP_001305758.1:p.Arg1636His | |
| NM_001318831.1:c.4520G>A | NP_001305760.1:p.Arg1507His | |
| NM_001318832.1:c.5084G>A | NP_001305761.1:p.Arg1695His | |
| NM_001363528.1:c.5054G>A | NP_001350457.1:p.Arg1685His | |
| NM_021055.2:c.5123G>A | NP_066399.2:p.Arg1708His | |
| XM_005255531.4:c.5054G>A | XP_005255588.2:p.Arg1685His | |
| XM_011522636.2:c.5306G>A | XP_011520938.1:p.Arg1769His | |
| XM_011522637.2:c.5303G>A | XP_011520939.1:p.Arg1768His | |
| XM_011522638.2:c.5468G>A | XP_011520940.2:p.Arg1823His | |
| XM_011522639.2:c.5177G>A | XP_011520941.1:p.Arg1726His | |
| XM_011522640.2:c.5174G>A | XP_011520942.1:p.Arg1725His | |
| XM_017023615.1:c.5249G>A | XP_016879104.1:p.Arg1750His | |
| XM_017023616.1:c.5120G>A | XP_016879105.1:p.Arg1707His | |
| XM_017023617.1:c.5216G>A | XP_016879106.1:p.Arg1739His | |
| XM_017023618.1:c.3962G>A | XP_016879107.1:p.Arg1321His | |
| XM_024450413.1:c.5138G>A | XP_024306181.1:p.Arg1713His | |
| NM_000548.5:c.5252G>A MANE Select | NP_000539.2:p.Arg1751His | |
| NM_001370404.1:c.5120G>A | NP_001357333.1:p.Arg1707His | |
| NM_001370405.1:c.5111G>A | NP_001357334.1:p.Arg1704His | |
| NM_001077183.3:c.5051G>A | NP_001070651.1:p.Arg1684His | |
| NM_001114382.3:c.5183G>A | NP_001107854.1:p.Arg1728His | |
| NM_001318827.2:c.4943G>A | NP_001305756.1:p.Arg1648His | |
| NM_001318829.2:c.4907G>A | NP_001305758.1:p.Arg1636His | |
| NM_001318831.2:c.4520G>A | NP_001305760.1:p.Arg1507His | |
| NM_001318832.2:c.5084G>A | NP_001305761.1:p.Arg1695His | |
| NM_001363528.2:c.5054G>A | NP_001350457.1:p.Arg1685His | |
| NM_021055.3:c.5123G>A | NP_066399.2:p.Arg1708His |