Linked Data
ClinVar Variation Id:
372688
dbSNP Id:
rs766093661
ExAC:
16:2138301 G / A
gnomAD v2:
16-2138301-G-A
gnomAD v3:
16-2088300-G-A
gnomAD v4:
16-2088300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088300G>A , CM000678.2:g.2088300G>A | GRCh38 |
| NC_000016.9:g.2138301G>A , CM000678.1:g.2138301G>A | GRCh37 |
| NC_000016.8:g.2078302G>A | NCBI36 |
| NG_005895.1:g.43995G>A , LRG_487:g.43995G>A | |
| NG_008617.1:g.54921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3583G>A | ENSP00000455997.2:n.*3583G>A | |
| ENST00000642206.2:c.5081G>A | ENSP00000495146.2:p.Arg1694His | |
| ENST00000642365.2:c.5231G>A | ENSP00000495459.2:p.Arg1744His | |
| ENST00000644417.2:c.*5747G>A | ENSP00000493912.2:n.*5747G>A | |
| ENST00000646464.2:c.*7983G>A | ENSP00000496610.2:n.*7983G>A | |
| ENST00000219476.9:c.5234G>A MANE Select | ENSP00000219476.3:p.Arg1745His | |
| ENST00000350773.9:c.5165G>A | ENSP00000344383.4:p.Arg1722His | |
| ENST00000401874.7:c.5033G>A | ENSP00000384468.2:p.Arg1678His | |
| ENST00000568454.6:c.5066G>A | ENSP00000454487.1:p.Arg1689His | |
| ENST00000569110.2:c.1457G>A | ||
| ENST00000569930.2:n.3116G>A | ||
| ENST00000642365.1:c.3888G>A | ||
| ENST00000642561.1:c.5093G>A | ENSP00000495099.1:p.Arg1698His | |
| ENST00000642791.1:n.831G>A | ||
| ENST00000642797.1:c.5036G>A | ENSP00000493846.1:p.Arg1679His | |
| ENST00000642936.1:c.5102G>A | ENSP00000494514.1:p.Arg1701His | |
| ENST00000643088.1:c.5027G>A | ENSP00000494747.1:p.Arg1676His | |
| ENST00000643426.1:n.2882G>A | ||
| ENST00000643946.1:c.5159G>A | ENSP00000495927.1:p.Arg1720His | |
| ENST00000644043.1:c.5105G>A | ENSP00000496262.1:p.Arg1702His | |
| ENST00000644329.1:c.5120G>A | ENSP00000496611.1:p.Arg1707His | |
| ENST00000644335.1:c.5030G>A | ENSP00000496317.1:p.Arg1677His | |
| ENST00000644399.1:c.5155G>A | ||
| ENST00000645024.1:n.3318G>A | ||
| ENST00000646388.1:c.5228G>A | ENSP00000495921.1:p.Arg1743His | |
| ENST00000646634.1:n.4049G>A | ||
| ENST00000646674.1:n.2486G>A | ||
| ENST00000647042.1:n.2457G>A | ||
| ENST00000647180.1:n.2347G>A | ||
| ENST00000219476.7:c.5234G>A | ENSP00000219476.3:p.Arg1745His | |
| ENST00000350773.8:c.5165G>A | ENSP00000344383.4:p.Arg1722His | |
| ENST00000382538.10:c.4889G>A | ENSP00000371978.6:p.Arg1630His | |
| ENST00000401874.6:c.5033G>A | ENSP00000384468.2:p.Arg1678His | |
| ENST00000439117.6:c.*4401G>A | ENSP00000406980.2:n.*4401G>A | |
| ENST00000439673.6:c.4925G>A | ENSP00000399232.2:p.Arg1642His | |
| ENST00000497886.5:n.2957G>A | ||
| ENST00000568454.5:c.5066G>A | ENSP00000454487.1:p.Arg1689His | |
| ENST00000569110.1:c.1416G>A | ||
| ENST00000569930.1:n.2349G>A | ||
| NM_000548.3:c.5234G>A , LRG_487t1:c.5234G>A | NP_000539.2:p.Arg1745His | |
| NM_001077183.1:c.5033G>A | NP_001070651.1:p.Arg1678His | |
| NM_001114382.1:c.5165G>A | NP_001107854.1:p.Arg1722His | |
| XM_005255529.3:c.5105G>A | XP_005255586.2:p.Arg1702His | |
| XM_005255531.3:c.5036G>A | XP_005255588.2:p.Arg1679His | |
| XM_011522636.1:c.5288G>A | XP_011520938.1:p.Arg1763His | |
| XM_011522637.1:c.5285G>A | XP_011520939.1:p.Arg1762His | |
| XM_011522638.1:c.5177G>A | XP_011520940.1:p.Arg1726His | |
| XM_011522639.1:c.5159G>A | XP_011520941.1:p.Arg1720His | |
| XM_011522640.1:c.5156G>A | XP_011520942.1:p.Arg1719His | |
| XM_011522641.1:c.4925G>A | XP_011520943.1:p.Arg1642His | |
| NM_000548.4:c.5234G>A | NP_000539.2:p.Arg1745His | |
| NM_001077183.2:c.5033G>A | NP_001070651.1:p.Arg1678His | |
| NM_001114382.2:c.5165G>A | NP_001107854.1:p.Arg1722His | |
| NM_001318827.1:c.4925G>A | NP_001305756.1:p.Arg1642His | |
| NM_001318829.1:c.4889G>A | NP_001305758.1:p.Arg1630His | |
| NM_001318831.1:c.4502G>A | NP_001305760.1:p.Arg1501His | |
| NM_001318832.1:c.5066G>A | NP_001305761.1:p.Arg1689His | |
| NM_001363528.1:c.5036G>A | NP_001350457.1:p.Arg1679His | |
| NM_021055.2:c.5105G>A | NP_066399.2:p.Arg1702His | |
| XM_005255531.4:c.5036G>A | XP_005255588.2:p.Arg1679His | |
| XM_011522636.2:c.5288G>A | XP_011520938.1:p.Arg1763His | |
| XM_011522637.2:c.5285G>A | XP_011520939.1:p.Arg1762His | |
| XM_011522638.2:c.5450G>A | XP_011520940.2:p.Arg1817His | |
| XM_011522639.2:c.5159G>A | XP_011520941.1:p.Arg1720His | |
| XM_011522640.2:c.5156G>A | XP_011520942.1:p.Arg1719His | |
| XM_017023615.1:c.5231G>A | XP_016879104.1:p.Arg1744His | |
| XM_017023616.1:c.5102G>A | XP_016879105.1:p.Arg1701His | |
| XM_017023617.1:c.5198G>A | XP_016879106.1:p.Arg1733His | |
| XM_017023618.1:c.3944G>A | XP_016879107.1:p.Arg1315His | |
| XM_024450413.1:c.5120G>A | XP_024306181.1:p.Arg1707His | |
| NM_000548.5:c.5234G>A MANE Select | NP_000539.2:p.Arg1745His | |
| NM_001370404.1:c.5102G>A | NP_001357333.1:p.Arg1701His | |
| NM_001370405.1:c.5093G>A | NP_001357334.1:p.Arg1698His | |
| NM_001077183.3:c.5033G>A | NP_001070651.1:p.Arg1678His | |
| NM_001114382.3:c.5165G>A | NP_001107854.1:p.Arg1722His | |
| NM_001318827.2:c.4925G>A | NP_001305756.1:p.Arg1642His | |
| NM_001318829.2:c.4889G>A | NP_001305758.1:p.Arg1630His | |
| NM_001318831.2:c.4502G>A | NP_001305760.1:p.Arg1501His | |
| NM_001318832.2:c.5066G>A | NP_001305761.1:p.Arg1689His | |
| NM_001363528.2:c.5036G>A | NP_001350457.1:p.Arg1679His | |
| NM_021055.3:c.5105G>A | NP_066399.2:p.Arg1702His |