Linked Data
ClinVar Variation Id:
49867
dbSNP Id:
rs45517409
ExAC:
16:2138252 C / T
gnomAD v2:
16-2138252-C-T
gnomAD v3:
16-2088251-C-T
gnomAD v4:
16-2088251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088251C>T , CM000678.2:g.2088251C>T | GRCh38 |
| NC_000016.9:g.2138252C>T , CM000678.1:g.2138252C>T | GRCh37 |
| NC_000016.8:g.2078253C>T | NCBI36 |
| NG_005895.1:g.43946C>T , LRG_487:g.43946C>T | |
| NG_008617.1:g.54970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3534C>T | ENSP00000455997.2:n.*3534C>T | |
| ENST00000642206.2:c.5032C>T | ENSP00000495146.2:p.Arg1678Cys | |
| ENST00000642365.2:c.5182C>T | ENSP00000495459.2:p.Arg1728Cys | |
| ENST00000644417.2:c.*5698C>T | ENSP00000493912.2:n.*5698C>T | |
| ENST00000646464.2:c.*7934C>T | ENSP00000496610.2:n.*7934C>T | |
| ENST00000219476.9:c.5185C>T MANE Select | ENSP00000219476.3:p.Arg1729Cys | |
| ENST00000350773.9:c.5116C>T | ENSP00000344383.4:p.Arg1706Cys | |
| ENST00000401874.7:c.4984C>T | ENSP00000384468.2:p.Arg1662Cys | |
| ENST00000568454.6:c.5017C>T | ENSP00000454487.1:p.Arg1673Cys | |
| ENST00000569110.2:c.1408C>T | ||
| ENST00000569930.2:n.3067C>T | ||
| ENST00000642365.1:c.3839C>T | ||
| ENST00000642561.1:c.5044C>T | ENSP00000495099.1:p.Arg1682Cys | |
| ENST00000642791.1:n.782C>T | ||
| ENST00000642797.1:c.4987C>T | ENSP00000493846.1:p.Arg1663Cys | |
| ENST00000642936.1:c.5053C>T | ENSP00000494514.1:p.Arg1685Cys | |
| ENST00000643088.1:c.4978C>T | ENSP00000494747.1:p.Arg1660Cys | |
| ENST00000643426.1:n.2833C>T | ||
| ENST00000643946.1:c.5110C>T | ENSP00000495927.1:p.Arg1704Cys | |
| ENST00000644043.1:c.5056C>T | ENSP00000496262.1:p.Arg1686Cys | |
| ENST00000644329.1:c.5071C>T | ENSP00000496611.1:p.Arg1691Cys | |
| ENST00000644335.1:c.4981C>T | ENSP00000496317.1:p.Arg1661Cys | |
| ENST00000644399.1:c.5106C>T | ||
| ENST00000645024.1:n.3269C>T | ||
| ENST00000646388.1:c.5179C>T | ENSP00000495921.1:p.Arg1727Cys | |
| ENST00000646634.1:n.4000C>T | ||
| ENST00000646674.1:n.2437C>T | ||
| ENST00000647042.1:n.2408C>T | ||
| ENST00000647180.1:n.2298C>T | ||
| ENST00000219476.7:c.5185C>T | ENSP00000219476.3:p.Arg1729Cys | |
| ENST00000350773.8:c.5116C>T | ENSP00000344383.4:p.Arg1706Cys | |
| ENST00000382538.10:c.4840C>T | ENSP00000371978.6:p.Arg1614Cys | |
| ENST00000401874.6:c.4984C>T | ENSP00000384468.2:p.Arg1662Cys | |
| ENST00000439117.6:c.*4352C>T | ENSP00000406980.2:n.*4352C>T | |
| ENST00000439673.6:c.4876C>T | ENSP00000399232.2:p.Arg1626Cys | |
| ENST00000497886.5:n.2908C>T | ||
| ENST00000568454.5:c.5017C>T | ENSP00000454487.1:p.Arg1673Cys | |
| ENST00000569110.1:c.1367C>T | ||
| ENST00000569930.1:n.2300C>T | ||
| NM_000548.3:c.5185C>T , LRG_487t1:c.5185C>T | NP_000539.2:p.Arg1729Cys | |
| NM_001077183.1:c.4984C>T | NP_001070651.1:p.Arg1662Cys | |
| NM_001114382.1:c.5116C>T | NP_001107854.1:p.Arg1706Cys | |
| XM_005255529.3:c.5056C>T | XP_005255586.2:p.Arg1686Cys | |
| XM_005255531.3:c.4987C>T | XP_005255588.2:p.Arg1663Cys | |
| XM_011522636.1:c.5239C>T | XP_011520938.1:p.Arg1747Cys | |
| XM_011522637.1:c.5236C>T | XP_011520939.1:p.Arg1746Cys | |
| XM_011522638.1:c.5128C>T | XP_011520940.1:p.Arg1710Cys | |
| XM_011522639.1:c.5110C>T | XP_011520941.1:p.Arg1704Cys | |
| XM_011522640.1:c.5107C>T | XP_011520942.1:p.Arg1703Cys | |
| XM_011522641.1:c.4876C>T | XP_011520943.1:p.Arg1626Cys | |
| NM_000548.4:c.5185C>T | NP_000539.2:p.Arg1729Cys | |
| NM_001077183.2:c.4984C>T | NP_001070651.1:p.Arg1662Cys | |
| NM_001114382.2:c.5116C>T | NP_001107854.1:p.Arg1706Cys | |
| NM_001318827.1:c.4876C>T | NP_001305756.1:p.Arg1626Cys | |
| NM_001318829.1:c.4840C>T | NP_001305758.1:p.Arg1614Cys | |
| NM_001318831.1:c.4453C>T | NP_001305760.1:p.Arg1485Cys | |
| NM_001318832.1:c.5017C>T | NP_001305761.1:p.Arg1673Cys | |
| NM_001363528.1:c.4987C>T | NP_001350457.1:p.Arg1663Cys | |
| NM_021055.2:c.5056C>T | NP_066399.2:p.Arg1686Cys | |
| XM_005255531.4:c.4987C>T | XP_005255588.2:p.Arg1663Cys | |
| XM_011522636.2:c.5239C>T | XP_011520938.1:p.Arg1747Cys | |
| XM_011522637.2:c.5236C>T | XP_011520939.1:p.Arg1746Cys | |
| XM_011522638.2:c.5401C>T | XP_011520940.2:p.Arg1801Cys | |
| XM_011522639.2:c.5110C>T | XP_011520941.1:p.Arg1704Cys | |
| XM_011522640.2:c.5107C>T | XP_011520942.1:p.Arg1703Cys | |
| XM_017023615.1:c.5182C>T | XP_016879104.1:p.Arg1728Cys | |
| XM_017023616.1:c.5053C>T | XP_016879105.1:p.Arg1685Cys | |
| XM_017023617.1:c.5149C>T | XP_016879106.1:p.Arg1717Cys | |
| XM_017023618.1:c.3895C>T | XP_016879107.1:p.Arg1299Cys | |
| XM_024450413.1:c.5071C>T | XP_024306181.1:p.Arg1691Cys | |
| NM_000548.5:c.5185C>T MANE Select | NP_000539.2:p.Arg1729Cys | |
| NM_001370404.1:c.5053C>T | NP_001357333.1:p.Arg1685Cys | |
| NM_001370405.1:c.5044C>T | NP_001357334.1:p.Arg1682Cys | |
| NM_001077183.3:c.4984C>T | NP_001070651.1:p.Arg1662Cys | |
| NM_001114382.3:c.5116C>T | NP_001107854.1:p.Arg1706Cys | |
| NM_001318827.2:c.4876C>T | NP_001305756.1:p.Arg1626Cys | |
| NM_001318829.2:c.4840C>T | NP_001305758.1:p.Arg1614Cys | |
| NM_001318831.2:c.4453C>T | NP_001305760.1:p.Arg1485Cys | |
| NM_001318832.2:c.5017C>T | NP_001305761.1:p.Arg1673Cys | |
| NM_001363528.2:c.4987C>T | NP_001350457.1:p.Arg1663Cys | |
| NM_021055.3:c.5056C>T | NP_066399.2:p.Arg1686Cys |