Linked Data
ClinVar Variation Id:
1338454
dbSNP Id:
rs1468762603
gnomAD v2:
11-17417212-G-A
gnomAD v3:
11-17395665-G-A
gnomAD v4:
11-17395665-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395665G>A , CM000673.2:g.17395665G>A | GRCh38 |
| NC_000011.9:g.17417212G>A , CM000673.1:g.17417212G>A | GRCh37 |
| NC_000011.8:g.17373788G>A | NCBI36 |
| NG_008867.1:g.86238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3853C>T | ||
| ENST00000528374.2:c.843C>T | ||
| ENST00000529967.6:n.2591C>T | ||
| ENST00000532220.2:n.3485C>T | ||
| ENST00000642611.2:n.5585C>T | ||
| ENST00000644057.2:n.828C>T | ||
| ENST00000645004.2:n.1751C>T | ||
| ENST00000682051.1:n.4414C>T | ||
| ENST00000682110.1:n.4467C>T | ||
| ENST00000682140.1:c.*38C>T | ENSP00000507829.1:n.*38C>T | |
| ENST00000682185.1:n.5557C>T | ||
| ENST00000682204.1:c.*2390C>T | ENSP00000507094.1:n.*2390C>T | |
| ENST00000682215.1:n.4834C>T | ||
| ENST00000682288.1:c.*2683C>T | ENSP00000507506.1:n.*2683C>T | |
| ENST00000682442.1:n.4687C>T | ||
| ENST00000682528.1:n.4544C>T | ||
| ENST00000682673.1:n.4411C>T | ||
| ENST00000682805.1:n.4872C>T | ||
| ENST00000682965.1:c.*674C>T | ENSP00000508229.1:n.*674C>T | |
| ENST00000683093.1:n.5551C>T | ||
| ENST00000683136.1:c.4135C>T | ENSP00000507768.1:p.Arg1379Cys | |
| ENST00000683153.1:n.4509C>T | ||
| ENST00000683365.1:n.4569C>T | ||
| ENST00000683377.1:n.4467C>T | ||
| ENST00000683456.1:c.*1389C>T | ENSP00000508318.1:n.*1389C>T | |
| ENST00000683522.1:n.4467C>T | ||
| ENST00000683562.1:c.*2421C>T | ENSP00000508265.1:n.*2421C>T | |
| ENST00000683693.1:n.6032C>T | ||
| ENST00000683725.1:c.4252C>T | ENSP00000507496.1:p.Arg1418Cys | |
| ENST00000684010.1:n.4462C>T | ||
| ENST00000684157.1:n.5452C>T | ||
| ENST00000684253.1:n.4370C>T | ||
| ENST00000684288.1:c.*2424C>T | ENSP00000507143.1:n.*2424C>T | |
| ENST00000684313.1:n.3899C>T | ||
| ENST00000684332.1:n.4540C>T | ||
| ENST00000684371.1:n.4573C>T | ||
| ENST00000684404.1:n.5495C>T | ||
| ENST00000684442.1:n.4691C>T | ||
| ENST00000684555.1:c.*2464C>T | ENSP00000507705.1:n.*2464C>T | |
| ENST00000684571.1:c.4093C>T | ENSP00000506935.1:p.Arg1365Cys | |
| ENST00000684593.1:c.*3957C>T | ENSP00000507005.1:n.*3957C>T | |
| ENST00000684711.1:c.*2648C>T | ENSP00000506841.1:n.*2648C>T | |
| ENST00000302539.9:c.4255C>T | ENSP00000303960.4:p.Arg1419Cys | |
| ENST00000389817.8:c.4252C>T MANE Select | ENSP00000374467.4:p.Arg1418Cys | |
| ENST00000642271.1:c.4249C>T | ENSP00000493749.1:p.Arg1417Cys | |
| ENST00000642579.1:c.2306C>T | ||
| ENST00000642611.1:n.5470C>T | ||
| ENST00000642902.1:c.4034C>T | ||
| ENST00000643260.1:c.4252C>T | ENSP00000494450.1:p.Arg1418Cys | |
| ENST00000643562.1:c.*2374C>T | ENSP00000496124.1:n.*2374C>T | |
| ENST00000643925.1:c.2892C>T | ||
| ENST00000644057.1:n.329C>T | ||
| ENST00000644484.1:c.*3638C>T | ENSP00000493558.1:n.*3638C>T | |
| ENST00000644675.1:c.*2424C>T | ENSP00000494567.1:n.*2424C>T | |
| ENST00000644757.1:c.*3202+599C>T | ENSP00000495085.1:n.*3202+599C>T | |
| ENST00000644772.1:c.4318C>T | ENSP00000494321.1:p.Arg1440Cys | |
| ENST00000645004.1:n.1945C>T | ||
| ENST00000645076.1:c.3451C>T | ||
| ENST00000645417.1:c.1440C>T | ||
| ENST00000645744.1:c.*3964-27C>T | ENSP00000494564.1:n.*3964-27C>T | |
| ENST00000645760.1:c.4673C>T | ||
| ENST00000645884.1:c.*1535C>T | ENSP00000495516.1:n.*1535C>T | |
| ENST00000646003.1:c.*2301-27C>T | ENSP00000495259.1:n.*2301-27C>T | |
| ENST00000646207.1:c.*3089C>T | ENSP00000495025.1:n.*3089C>T | |
| ENST00000646276.1:c.*3656C>T | ENSP00000496070.1:n.*3656C>T | |
| ENST00000646592.1:c.3558C>T | ||
| ENST00000646902.1:c.4219C>T | ENSP00000494101.1:p.Arg1407Cys | |
| ENST00000646993.1:c.*2794C>T | ENSP00000493720.1:n.*2794C>T | |
| ENST00000647013.1:c.4258C>T | ENSP00000496741.1:n.4258C>T | |
| ENST00000647015.1:c.4003C>T | ENSP00000495389.1:p.Arg1335Cys | |
| ENST00000647086.1:c.*3838C>T | ENSP00000493677.1:n.*3838C>T | |
| ENST00000647158.1:c.*2539C>T | ENSP00000495744.1:n.*2539C>T | |
| ENST00000302539.8:c.4255C>T | ENSP00000303960.4:p.Arg1419Cys | |
| ENST00000389817.7:c.4252C>T | ENSP00000374467.3:p.Arg1418Cys | |
| ENST00000525022.1:n.251C>T | ||
| ENST00000526037.5:n.116C>T | ||
| ENST00000526168.5:c.67-27C>T | ||
| ENST00000531642.5:c.88C>T | ||
| NM_000352.4:c.4252C>T | NP_000343.2:p.Arg1418Cys | |
| NM_001287174.1:c.4255C>T | NP_001274103.1:p.Arg1419Cys | |
| XM_011520331.1:c.4252C>T | XP_011518633.1:p.Arg1418Cys | |
| XM_011520332.1:c.4255C>T | XP_011518634.1:p.Arg1419Cys | |
| XM_011520333.1:c.2752C>T | XP_011518635.1:p.Arg918Cys | |
| XR_930890.1:n.4318C>T | ||
| NM_001351295.1:c.4318C>T | NP_001338224.1:p.Arg1440Cys | |
| NM_001351296.1:c.4252C>T | NP_001338225.1:p.Arg1418Cys | |
| NM_001351297.1:c.4249C>T | NP_001338226.1:p.Arg1417Cys | |
| NR_147094.1:n.4547C>T | ||
| XM_017018197.2:c.4321C>T | XP_016873686.1:p.Arg1441Cys | |
| XM_017018199.1:c.4318C>T | XP_016873688.1:p.Arg1440Cys | |
| XM_017018201.2:c.4321C>T | XP_016873690.1:p.Arg1441Cys | |
| XM_017018202.1:c.2818C>T | XP_016873691.1:p.Arg940Cys | |
| XM_017018204.1:c.2209C>T | XP_016873693.1:p.Arg737Cys | |
| XM_024448668.1:c.2620C>T | XP_024304436.1:p.Arg874Cys | |
| XR_001747945.2:n.4393C>T | ||
| XR_001747946.2:n.4324C>T | ||
| XR_002957189.1:n.6107C>T | ||
| NM_000352.6:c.4252C>T MANE Select | NP_000343.2:p.Arg1418Cys | |
| NM_001287174.2:c.4255C>T | NP_001274103.1:p.Arg1419Cys | |
| NM_001351295.2:c.4318C>T | NP_001338224.1:p.Arg1440Cys | |
| NM_001351296.2:c.4252C>T | NP_001338225.1:p.Arg1418Cys | |
| NM_001351297.2:c.4249C>T | NP_001338226.1:p.Arg1417Cys | |
| NR_147094.2:n.4547C>T | ||
| NM_001287174.3:c.4255C>T | NP_001274103.1:p.Arg1419Cys |