Linked Data
ClinVar Variation Id:
238084
dbSNP Id:
rs536518032
ExAC:
16:2138506 T / C
gnomAD v2:
16-2138506-T-C
gnomAD v3:
16-2088505-T-C
gnomAD v4:
16-2088505-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088505T>C , CM000678.2:g.2088505T>C | GRCh38 |
| NC_000016.9:g.2138506T>C , CM000678.1:g.2138506T>C | GRCh37 |
| NC_000016.8:g.2078507T>C | NCBI36 |
| NG_005895.1:g.44200T>C , LRG_487:g.44200T>C | |
| NG_008617.1:g.54716A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3668T>C | ENSP00000455997.2:n.*3668T>C | |
| ENST00000642206.2:c.5166T>C | ENSP00000495146.2:p.His1722= | |
| ENST00000642365.2:c.5316T>C | ENSP00000495459.2:p.His1772= | |
| ENST00000644417.2:c.*5832T>C | ENSP00000493912.2:n.*5832T>C | |
| ENST00000646464.2:c.*8068T>C | ENSP00000496610.2:n.*8068T>C | |
| ENST00000219476.9:c.5319T>C MANE Select | ENSP00000219476.3:p.His1773= | |
| ENST00000350773.9:c.5250T>C | ENSP00000344383.4:p.His1750= | |
| ENST00000401874.7:c.5118T>C | ENSP00000384468.2:p.His1706= | |
| ENST00000568454.6:c.5151T>C | ENSP00000454487.1:p.His1717= | |
| ENST00000569110.2:c.1542T>C | ||
| ENST00000569930.2:n.3201T>C | ||
| ENST00000642365.1:c.3973T>C | ||
| ENST00000642561.1:c.5178T>C | ENSP00000495099.1:p.His1726= | |
| ENST00000642791.1:n.916T>C | ||
| ENST00000642797.1:c.5121T>C | ENSP00000493846.1:p.His1707= | |
| ENST00000642936.1:c.5187T>C | ENSP00000494514.1:p.His1729= | |
| ENST00000643088.1:c.5112T>C | ENSP00000494747.1:p.His1704= | |
| ENST00000643426.1:n.2967T>C | ||
| ENST00000643946.1:c.5244T>C | ENSP00000495927.1:p.His1748= | |
| ENST00000644043.1:c.5190T>C | ENSP00000496262.1:p.His1730= | |
| ENST00000644329.1:c.5205T>C | ENSP00000496611.1:p.His1735= | |
| ENST00000644335.1:c.5115T>C | ENSP00000496317.1:p.His1705= | |
| ENST00000644399.1:c.5240T>C | ||
| ENST00000645024.1:n.3403T>C | ||
| ENST00000646388.1:c.5313T>C | ENSP00000495921.1:p.His1771= | |
| ENST00000646634.1:n.4134T>C | ||
| ENST00000646674.1:n.2571T>C | ||
| ENST00000647042.1:n.2542T>C | ||
| ENST00000647180.1:n.2432T>C | ||
| ENST00000219476.7:c.5319T>C | ENSP00000219476.3:p.His1773= | |
| ENST00000350773.8:c.5250T>C | ENSP00000344383.4:p.His1750= | |
| ENST00000382538.10:c.4974T>C | ENSP00000371978.6:p.His1658= | |
| ENST00000401874.6:c.5118T>C | ENSP00000384468.2:p.His1706= | |
| ENST00000439117.6:c.*4486T>C | ENSP00000406980.2:n.*4486T>C | |
| ENST00000439673.6:c.5010T>C | ENSP00000399232.2:p.His1670= | |
| ENST00000497886.5:n.3042T>C | ||
| ENST00000568454.5:c.5151T>C | ENSP00000454487.1:p.His1717= | |
| ENST00000569110.1:c.1501T>C | ||
| ENST00000569930.1:n.2434T>C | ||
| NM_000548.3:c.5319T>C , LRG_487t1:c.5319T>C | NP_000539.2:p.His1773= | |
| NM_001077183.1:c.5118T>C | NP_001070651.1:p.His1706= | |
| NM_001114382.1:c.5250T>C | NP_001107854.1:p.His1750= | |
| XM_005255529.3:c.5190T>C | XP_005255586.2:p.His1730= | |
| XM_005255531.3:c.5121T>C | XP_005255588.2:p.His1707= | |
| XM_011522636.1:c.5373T>C | XP_011520938.1:p.His1791= | |
| XM_011522637.1:c.5370T>C | XP_011520939.1:p.His1790= | |
| XM_011522638.1:c.5262T>C | XP_011520940.1:p.His1754= | |
| XM_011522639.1:c.5244T>C | XP_011520941.1:p.His1748= | |
| XM_011522640.1:c.5241T>C | XP_011520942.1:p.His1747= | |
| XM_011522641.1:c.5010T>C | XP_011520943.1:p.His1670= | |
| NM_000548.4:c.5319T>C | NP_000539.2:p.His1773= | |
| NM_001077183.2:c.5118T>C | NP_001070651.1:p.His1706= | |
| NM_001114382.2:c.5250T>C | NP_001107854.1:p.His1750= | |
| NM_001318827.1:c.5010T>C | NP_001305756.1:p.His1670= | |
| NM_001318829.1:c.4974T>C | NP_001305758.1:p.His1658= | |
| NM_001318831.1:c.4587T>C | NP_001305760.1:p.His1529= | |
| NM_001318832.1:c.5151T>C | NP_001305761.1:p.His1717= | |
| NM_001363528.1:c.5121T>C | NP_001350457.1:p.His1707= | |
| NM_021055.2:c.5190T>C | NP_066399.2:p.His1730= | |
| XM_005255531.4:c.5121T>C | XP_005255588.2:p.His1707= | |
| XM_011522636.2:c.5373T>C | XP_011520938.1:p.His1791= | |
| XM_011522637.2:c.5370T>C | XP_011520939.1:p.His1790= | |
| XM_011522638.2:c.5535T>C | XP_011520940.2:p.His1845= | |
| XM_011522639.2:c.5244T>C | XP_011520941.1:p.His1748= | |
| XM_011522640.2:c.5241T>C | XP_011520942.1:p.His1747= | |
| XM_017023615.1:c.5316T>C | XP_016879104.1:p.His1772= | |
| XM_017023616.1:c.5187T>C | XP_016879105.1:p.His1729= | |
| XM_017023617.1:c.5283T>C | XP_016879106.1:p.His1761= | |
| XM_017023618.1:c.4029T>C | XP_016879107.1:p.His1343= | |
| XM_024450413.1:c.5205T>C | XP_024306181.1:p.His1735= | |
| NM_000548.5:c.5319T>C MANE Select | NP_000539.2:p.His1773= | |
| NM_001370404.1:c.5187T>C | NP_001357333.1:p.His1729= | |
| NM_001370405.1:c.5178T>C | NP_001357334.1:p.His1726= | |
| NM_001077183.3:c.5118T>C | NP_001070651.1:p.His1706= | |
| NM_001114382.3:c.5250T>C | NP_001107854.1:p.His1750= | |
| NM_001318827.2:c.5010T>C | NP_001305756.1:p.His1670= | |
| NM_001318829.2:c.4974T>C | NP_001305758.1:p.His1658= | |
| NM_001318831.2:c.4587T>C | NP_001305760.1:p.His1529= | |
| NM_001318832.2:c.5151T>C | NP_001305761.1:p.His1717= | |
| NM_001363528.2:c.5121T>C | NP_001350457.1:p.His1707= | |
| NM_021055.3:c.5190T>C | NP_066399.2:p.His1730= |