Linked Data
ClinVar Variation Id:
184400
dbSNP Id:
rs141449031
ExAC:
16:2138452 C / T
gnomAD v2:
16-2138452-C-T
gnomAD v3:
16-2088451-C-T
gnomAD v4:
16-2088451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088451C>T , CM000678.2:g.2088451C>T | GRCh38 |
| NC_000016.9:g.2138452C>T , CM000678.1:g.2138452C>T | GRCh37 |
| NC_000016.8:g.2078453C>T | NCBI36 |
| NG_005895.1:g.44146C>T , LRG_487:g.44146C>T | |
| NG_008617.1:g.54770G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3614C>T | ENSP00000455997.2:n.*3614C>T | |
| ENST00000642206.2:c.5112C>T | ENSP00000495146.2:p.Cys1704= | |
| ENST00000642365.2:c.5262C>T | ENSP00000495459.2:p.Cys1754= | |
| ENST00000644417.2:c.*5778C>T | ENSP00000493912.2:n.*5778C>T | |
| ENST00000646464.2:c.*8014C>T | ENSP00000496610.2:n.*8014C>T | |
| ENST00000219476.9:c.5265C>T MANE Select | ENSP00000219476.3:p.Cys1755= | |
| ENST00000350773.9:c.5196C>T | ENSP00000344383.4:p.Cys1732= | |
| ENST00000401874.7:c.5064C>T | ENSP00000384468.2:p.Cys1688= | |
| ENST00000568454.6:c.5097C>T | ENSP00000454487.1:p.Cys1699= | |
| ENST00000569110.2:c.1488C>T | ||
| ENST00000569930.2:n.3147C>T | ||
| ENST00000642365.1:c.3919C>T | ||
| ENST00000642561.1:c.5124C>T | ENSP00000495099.1:p.Cys1708= | |
| ENST00000642791.1:n.862C>T | ||
| ENST00000642797.1:c.5067C>T | ENSP00000493846.1:p.Cys1689= | |
| ENST00000642936.1:c.5133C>T | ENSP00000494514.1:p.Cys1711= | |
| ENST00000643088.1:c.5058C>T | ENSP00000494747.1:p.Cys1686= | |
| ENST00000643426.1:n.2913C>T | ||
| ENST00000643946.1:c.5190C>T | ENSP00000495927.1:p.Cys1730= | |
| ENST00000644043.1:c.5136C>T | ENSP00000496262.1:p.Cys1712= | |
| ENST00000644329.1:c.5151C>T | ENSP00000496611.1:p.Cys1717= | |
| ENST00000644335.1:c.5061C>T | ENSP00000496317.1:p.Cys1687= | |
| ENST00000644399.1:c.5186C>T | ||
| ENST00000645024.1:n.3349C>T | ||
| ENST00000646388.1:c.5259C>T | ENSP00000495921.1:p.Cys1753= | |
| ENST00000646634.1:n.4080C>T | ||
| ENST00000646674.1:n.2517C>T | ||
| ENST00000647042.1:n.2488C>T | ||
| ENST00000647180.1:n.2378C>T | ||
| ENST00000219476.7:c.5265C>T | ENSP00000219476.3:p.Cys1755= | |
| ENST00000350773.8:c.5196C>T | ENSP00000344383.4:p.Cys1732= | |
| ENST00000382538.10:c.4920C>T | ENSP00000371978.6:p.Cys1640= | |
| ENST00000401874.6:c.5064C>T | ENSP00000384468.2:p.Cys1688= | |
| ENST00000439117.6:c.*4432C>T | ENSP00000406980.2:n.*4432C>T | |
| ENST00000439673.6:c.4956C>T | ENSP00000399232.2:p.Cys1652= | |
| ENST00000497886.5:n.2988C>T | ||
| ENST00000568454.5:c.5097C>T | ENSP00000454487.1:p.Cys1699= | |
| ENST00000569110.1:c.1447C>T | ||
| ENST00000569930.1:n.2380C>T | ||
| NM_000548.3:c.5265C>T , LRG_487t1:c.5265C>T | NP_000539.2:p.Cys1755= | |
| NM_001077183.1:c.5064C>T | NP_001070651.1:p.Cys1688= | |
| NM_001114382.1:c.5196C>T | NP_001107854.1:p.Cys1732= | |
| XM_005255529.3:c.5136C>T | XP_005255586.2:p.Cys1712= | |
| XM_005255531.3:c.5067C>T | XP_005255588.2:p.Cys1689= | |
| XM_011522636.1:c.5319C>T | XP_011520938.1:p.Cys1773= | |
| XM_011522637.1:c.5316C>T | XP_011520939.1:p.Cys1772= | |
| XM_011522638.1:c.5208C>T | XP_011520940.1:p.Cys1736= | |
| XM_011522639.1:c.5190C>T | XP_011520941.1:p.Cys1730= | |
| XM_011522640.1:c.5187C>T | XP_011520942.1:p.Cys1729= | |
| XM_011522641.1:c.4956C>T | XP_011520943.1:p.Cys1652= | |
| NM_000548.4:c.5265C>T | NP_000539.2:p.Cys1755= | |
| NM_001077183.2:c.5064C>T | NP_001070651.1:p.Cys1688= | |
| NM_001114382.2:c.5196C>T | NP_001107854.1:p.Cys1732= | |
| NM_001318827.1:c.4956C>T | NP_001305756.1:p.Cys1652= | |
| NM_001318829.1:c.4920C>T | NP_001305758.1:p.Cys1640= | |
| NM_001318831.1:c.4533C>T | NP_001305760.1:p.Cys1511= | |
| NM_001318832.1:c.5097C>T | NP_001305761.1:p.Cys1699= | |
| NM_001363528.1:c.5067C>T | NP_001350457.1:p.Cys1689= | |
| NM_021055.2:c.5136C>T | NP_066399.2:p.Cys1712= | |
| XM_005255531.4:c.5067C>T | XP_005255588.2:p.Cys1689= | |
| XM_011522636.2:c.5319C>T | XP_011520938.1:p.Cys1773= | |
| XM_011522637.2:c.5316C>T | XP_011520939.1:p.Cys1772= | |
| XM_011522638.2:c.5481C>T | XP_011520940.2:p.Cys1827= | |
| XM_011522639.2:c.5190C>T | XP_011520941.1:p.Cys1730= | |
| XM_011522640.2:c.5187C>T | XP_011520942.1:p.Cys1729= | |
| XM_017023615.1:c.5262C>T | XP_016879104.1:p.Cys1754= | |
| XM_017023616.1:c.5133C>T | XP_016879105.1:p.Cys1711= | |
| XM_017023617.1:c.5229C>T | XP_016879106.1:p.Cys1743= | |
| XM_017023618.1:c.3975C>T | XP_016879107.1:p.Cys1325= | |
| XM_024450413.1:c.5151C>T | XP_024306181.1:p.Cys1717= | |
| NM_000548.5:c.5265C>T MANE Select | NP_000539.2:p.Cys1755= | |
| NM_001370404.1:c.5133C>T | NP_001357333.1:p.Cys1711= | |
| NM_001370405.1:c.5124C>T | NP_001357334.1:p.Cys1708= | |
| NM_001077183.3:c.5064C>T | NP_001070651.1:p.Cys1688= | |
| NM_001114382.3:c.5196C>T | NP_001107854.1:p.Cys1732= | |
| NM_001318827.2:c.4956C>T | NP_001305756.1:p.Cys1652= | |
| NM_001318829.2:c.4920C>T | NP_001305758.1:p.Cys1640= | |
| NM_001318831.2:c.4533C>T | NP_001305760.1:p.Cys1511= | |
| NM_001318832.2:c.5097C>T | NP_001305761.1:p.Cys1699= | |
| NM_001363528.2:c.5067C>T | NP_001350457.1:p.Cys1689= | |
| NM_021055.3:c.5136C>T | NP_066399.2:p.Cys1712= |