Linked Data
ClinVar Variation Id:
406029
dbSNP Id:
rs759420443
ExAC:
16:2138117 C / T
gnomAD v2:
16-2138117-C-T
gnomAD v3:
16-2088116-C-T
gnomAD v4:
16-2088116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088116C>T , CM000678.2:g.2088116C>T | GRCh38 |
| NC_000016.9:g.2138117C>T , CM000678.1:g.2138117C>T | GRCh37 |
| NC_000016.8:g.2078118C>T | NCBI36 |
| NG_005895.1:g.43811C>T , LRG_487:g.43811C>T | |
| NG_008617.1:g.55105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3486C>T | ENSP00000455997.2:n.*3486C>T | |
| ENST00000642206.2:c.4984C>T | ENSP00000495146.2:p.Arg1662Cys | |
| ENST00000642365.2:c.5134C>T | ENSP00000495459.2:p.Arg1712Cys | |
| ENST00000644417.2:c.*5650C>T | ENSP00000493912.2:n.*5650C>T | |
| ENST00000646464.2:c.*7886C>T | ENSP00000496610.2:n.*7886C>T | |
| ENST00000219476.9:c.5137C>T MANE Select | ENSP00000219476.3:p.Arg1713Cys | |
| ENST00000350773.9:c.5068C>T | ENSP00000344383.4:p.Arg1690Cys | |
| ENST00000401874.7:c.4936C>T | ENSP00000384468.2:p.Arg1646Cys | |
| ENST00000568454.6:c.4969C>T | ENSP00000454487.1:p.Arg1657Cys | |
| ENST00000569110.2:c.1360C>T | ||
| ENST00000569930.2:n.3019C>T | ||
| ENST00000642365.1:c.3791C>T | ||
| ENST00000642561.1:c.5008C>T | ENSP00000495099.1:p.Arg1670Cys | |
| ENST00000642791.1:n.734C>T | ||
| ENST00000642797.1:c.4939C>T | ENSP00000493846.1:p.Arg1647Cys | |
| ENST00000642936.1:c.5005C>T | ENSP00000494514.1:p.Arg1669Cys | |
| ENST00000643088.1:c.4930C>T | ENSP00000494747.1:p.Arg1644Cys | |
| ENST00000643426.1:n.2785C>T | ||
| ENST00000643946.1:c.5062C>T | ENSP00000495927.1:p.Arg1688Cys | |
| ENST00000644043.1:c.5008C>T | ENSP00000496262.1:p.Arg1670Cys | |
| ENST00000644329.1:c.4936C>T | ENSP00000496611.1:p.Arg1646Cys | |
| ENST00000644335.1:c.4933C>T | ENSP00000496317.1:p.Arg1645Cys | |
| ENST00000644399.1:c.5058C>T | ||
| ENST00000645024.1:n.3221C>T | ||
| ENST00000646388.1:c.5131C>T | ENSP00000495921.1:p.Arg1711Cys | |
| ENST00000646634.1:n.3952C>T | ||
| ENST00000646674.1:n.2389C>T | ||
| ENST00000647042.1:n.2360C>T | ||
| ENST00000647180.1:n.2250C>T | ||
| ENST00000219476.7:c.5137C>T | ENSP00000219476.3:p.Arg1713Cys | |
| ENST00000350773.8:c.5068C>T | ENSP00000344383.4:p.Arg1690Cys | |
| ENST00000382538.10:c.4792C>T | ENSP00000371978.6:p.Arg1598Cys | |
| ENST00000401874.6:c.4936C>T | ENSP00000384468.2:p.Arg1646Cys | |
| ENST00000439117.6:c.*4304C>T | ENSP00000406980.2:n.*4304C>T | |
| ENST00000439673.6:c.4828C>T | ENSP00000399232.2:p.Arg1610Cys | |
| ENST00000497886.5:n.2860C>T | ||
| ENST00000568454.5:c.4969C>T | ENSP00000454487.1:p.Arg1657Cys | |
| ENST00000569110.1:c.1319C>T | ||
| ENST00000569930.1:n.2252C>T | ||
| NM_000548.3:c.5137C>T , LRG_487t1:c.5137C>T | NP_000539.2:p.Arg1713Cys | |
| NM_001077183.1:c.4936C>T | NP_001070651.1:p.Arg1646Cys | |
| NM_001114382.1:c.5068C>T | NP_001107854.1:p.Arg1690Cys | |
| XM_005255529.3:c.5008C>T | XP_005255586.2:p.Arg1670Cys | |
| XM_005255531.3:c.4939C>T | XP_005255588.2:p.Arg1647Cys | |
| XM_011522636.1:c.5191C>T | XP_011520938.1:p.Arg1731Cys | |
| XM_011522637.1:c.5188C>T | XP_011520939.1:p.Arg1730Cys | |
| XM_011522638.1:c.5080C>T | XP_011520940.1:p.Arg1694Cys | |
| XM_011522639.1:c.5062C>T | XP_011520941.1:p.Arg1688Cys | |
| XM_011522640.1:c.5059C>T | XP_011520942.1:p.Arg1687Cys | |
| XM_011522641.1:c.4828C>T | XP_011520943.1:p.Arg1610Cys | |
| NM_000548.4:c.5137C>T | NP_000539.2:p.Arg1713Cys | |
| NM_001077183.2:c.4936C>T | NP_001070651.1:p.Arg1646Cys | |
| NM_001114382.2:c.5068C>T | NP_001107854.1:p.Arg1690Cys | |
| NM_001318827.1:c.4828C>T | NP_001305756.1:p.Arg1610Cys | |
| NM_001318829.1:c.4792C>T | NP_001305758.1:p.Arg1598Cys | |
| NM_001318831.1:c.4405C>T | NP_001305760.1:p.Arg1469Cys | |
| NM_001318832.1:c.4969C>T | NP_001305761.1:p.Arg1657Cys | |
| NM_001363528.1:c.4939C>T | NP_001350457.1:p.Arg1647Cys | |
| NM_021055.2:c.5008C>T | NP_066399.2:p.Arg1670Cys | |
| XM_005255531.4:c.4939C>T | XP_005255588.2:p.Arg1647Cys | |
| XM_011522636.2:c.5191C>T | XP_011520938.1:p.Arg1731Cys | |
| XM_011522637.2:c.5188C>T | XP_011520939.1:p.Arg1730Cys | |
| XM_011522638.2:c.5353C>T | XP_011520940.2:p.Arg1785Cys | |
| XM_011522639.2:c.5062C>T | XP_011520941.1:p.Arg1688Cys | |
| XM_011522640.2:c.5059C>T | XP_011520942.1:p.Arg1687Cys | |
| XM_017023615.1:c.5134C>T | XP_016879104.1:p.Arg1712Cys | |
| XM_017023616.1:c.5005C>T | XP_016879105.1:p.Arg1669Cys | |
| XM_017023617.1:c.5101C>T | XP_016879106.1:p.Arg1701Cys | |
| XM_017023618.1:c.3847C>T | XP_016879107.1:p.Arg1283Cys | |
| XM_024450413.1:c.4936C>T | XP_024306181.1:p.Arg1646Cys | |
| NM_000548.5:c.5137C>T MANE Select | NP_000539.2:p.Arg1713Cys | |
| NM_001370404.1:c.5005C>T | NP_001357333.1:p.Arg1669Cys | |
| NM_001370405.1:c.5008C>T | NP_001357334.1:p.Arg1670Cys | |
| NM_001077183.3:c.4936C>T | NP_001070651.1:p.Arg1646Cys | |
| NM_001114382.3:c.5068C>T | NP_001107854.1:p.Arg1690Cys | |
| NM_001318827.2:c.4828C>T | NP_001305756.1:p.Arg1610Cys | |
| NM_001318829.2:c.4792C>T | NP_001305758.1:p.Arg1598Cys | |
| NM_001318831.2:c.4405C>T | NP_001305760.1:p.Arg1469Cys | |
| NM_001318832.2:c.4969C>T | NP_001305761.1:p.Arg1657Cys | |
| NM_001363528.2:c.4939C>T | NP_001350457.1:p.Arg1647Cys | |
| NM_021055.3:c.5008C>T | NP_066399.2:p.Arg1670Cys |