Linked Data
ClinVar Variation Id:
1099864
ClinVar RCV Id:
RCV001422270
dbSNP Id:
rs2133470447
MyVariant Identifiers:
chr11:g.17434264C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17412717C>T , CM000673.2:g.17412717C>T | GRCh38 |
| NC_000011.9:g.17434264C>T , CM000673.1:g.17434264C>T | GRCh37 |
| NC_000011.8:g.17390840C>T | NCBI36 |
| NG_008867.1:g.69186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2174G>A | ||
| ENST00000529967.6:n.764G>A | ||
| ENST00000642611.2:n.2574G>A | ||
| ENST00000682051.1:n.2521G>A | ||
| ENST00000682110.1:n.2574G>A | ||
| ENST00000682140.1:c.2502G>A | ENSP00000507829.1:p.Gln834= | |
| ENST00000682185.1:n.3810G>A | ||
| ENST00000682204.1:c.*643G>A | ENSP00000507094.1:n.*643G>A | |
| ENST00000682215.1:n.2571G>A | ||
| ENST00000682288.1:c.*936G>A | ENSP00000507506.1:n.*936G>A | |
| ENST00000682442.1:n.2695G>A | ||
| ENST00000682528.1:n.2571G>A | ||
| ENST00000682673.1:n.2518G>A | ||
| ENST00000682805.1:n.2571G>A | ||
| ENST00000682965.1:c.2502G>A | ENSP00000508229.1:p.Gln834= | |
| ENST00000683093.1:n.2673G>A | ||
| ENST00000683136.1:c.2502G>A | ENSP00000507768.1:p.Gln834= | |
| ENST00000683153.1:n.2730G>A | ||
| ENST00000683365.1:n.2676G>A | ||
| ENST00000683377.1:n.2574G>A | ||
| ENST00000683456.1:c.2505G>A | ENSP00000508318.1:p.Gln835= | |
| ENST00000683522.1:n.2574G>A | ||
| ENST00000683562.1:c.*674G>A | ENSP00000508265.1:n.*674G>A | |
| ENST00000683693.1:n.2571G>A | ||
| ENST00000683725.1:c.2505G>A | ENSP00000507496.1:p.Gln835= | |
| ENST00000684010.1:n.2489G>A | ||
| ENST00000684157.1:n.2574G>A | ||
| ENST00000684253.1:n.2477G>A | ||
| ENST00000684288.1:c.*677G>A | ENSP00000507143.1:n.*677G>A | |
| ENST00000684313.1:n.2006G>A | ||
| ENST00000684332.1:n.2647G>A | ||
| ENST00000684371.1:n.2680G>A | ||
| ENST00000684404.1:n.2571G>A | ||
| ENST00000684442.1:n.2574G>A | ||
| ENST00000684555.1:c.*717G>A | ENSP00000507705.1:n.*717G>A | |
| ENST00000684571.1:c.2346G>A | ENSP00000506935.1:p.Gln782= | |
| ENST00000684593.1:c.*2210G>A | ENSP00000507005.1:n.*2210G>A | |
| ENST00000684711.1:c.*901G>A | ENSP00000506841.1:n.*901G>A | |
| ENST00000302539.9:c.2508G>A | ENSP00000303960.4:p.Gln836= | |
| ENST00000389817.8:c.2505G>A MANE Select | ENSP00000374467.4:p.Gln835= | |
| ENST00000642271.1:c.2502G>A | ENSP00000493749.1:p.Gln834= | |
| ENST00000642579.1:c.589G>A | ||
| ENST00000642611.1:n.2459G>A | ||
| ENST00000642902.1:c.2340G>A | ||
| ENST00000643260.1:c.2505G>A | ENSP00000494450.1:p.Gln835= | |
| ENST00000643562.1:c.*481G>A | ENSP00000496124.1:n.*481G>A | |
| ENST00000643925.1:c.549G>A | ||
| ENST00000644447.1:c.861G>A | ENSP00000496282.1:p.Gln287= | |
| ENST00000644472.1:c.*866G>A | ENSP00000495378.1:n.*866G>A | |
| ENST00000644484.1:c.*714G>A | ENSP00000493558.1:n.*714G>A | |
| ENST00000644542.1:c.*2210G>A | ENSP00000495532.1:n.*2210G>A | |
| ENST00000644675.1:c.*677G>A | ENSP00000494567.1:n.*677G>A | |
| ENST00000644757.1:c.*810G>A | ENSP00000495085.1:n.*810G>A | |
| ENST00000644772.1:c.2571G>A | ENSP00000494321.1:p.Gln857= | |
| ENST00000645076.1:c.1757G>A | ||
| ENST00000645744.1:c.*869G>A | ENSP00000494564.1:n.*869G>A | |
| ENST00000645760.1:c.2780G>A | ||
| ENST00000645884.1:c.2505G>A | ENSP00000495516.1:p.Gln835= | |
| ENST00000646003.1:c.*561G>A | ENSP00000495259.1:n.*561G>A | |
| ENST00000646207.1:c.*869G>A | ENSP00000495025.1:n.*869G>A | |
| ENST00000646276.1:c.*778G>A | ENSP00000496070.1:n.*778G>A | |
| ENST00000646592.1:c.1731G>A | ||
| ENST00000646902.1:c.2502G>A | ENSP00000494101.1:p.Gln834= | |
| ENST00000646993.1:c.*901G>A | ENSP00000493720.1:n.*901G>A | |
| ENST00000647013.1:c.2511G>A | ENSP00000496741.1:n.2511G>A | |
| ENST00000647015.1:c.2256G>A | ENSP00000495389.1:p.Gln752= | |
| ENST00000647086.1:c.*2235G>A | ENSP00000493677.1:n.*2235G>A | |
| ENST00000647158.1:c.*646G>A | ENSP00000495744.1:n.*646G>A | |
| ENST00000302539.8:c.2508G>A | ENSP00000303960.4:p.Gln836= | |
| ENST00000389817.7:c.2505G>A | ENSP00000374467.3:p.Gln835= | |
| ENST00000526921.5:n.189G>A | ||
| ENST00000527905.5:c.2475G>A | ENSP00000431653.1:p.Gln825= | |
| ENST00000529967.5:n.174G>A | ||
| ENST00000530147.5:n.88G>A | ||
| ENST00000531911.1:n.619G>A | ||
| NM_000352.4:c.2505G>A | NP_000343.2:p.Gln835= | |
| NM_001287174.1:c.2508G>A | NP_001274103.1:p.Gln836= | |
| XM_011520331.1:c.2505G>A | XP_011518633.1:p.Gln835= | |
| XM_011520332.1:c.2508G>A | XP_011518634.1:p.Gln836= | |
| XM_011520333.1:c.1005G>A | XP_011518635.1:p.Gln335= | |
| XM_011520334.1:c.2508G>A | XP_011518636.1:p.Gln836= | |
| XR_930890.1:n.2571G>A | ||
| XR_930891.1:n.2571G>A | ||
| XR_930892.1:n.2571G>A | ||
| XR_930893.1:n.2568G>A | ||
| NM_001351295.1:c.2571G>A | NP_001338224.1:p.Gln857= | |
| NM_001351296.1:c.2505G>A | NP_001338225.1:p.Gln835= | |
| NM_001351297.1:c.2502G>A | NP_001338226.1:p.Gln834= | |
| NR_147094.1:n.2574G>A | ||
| XM_017018197.2:c.2574G>A | XP_016873686.1:p.Gln858= | |
| XM_017018199.1:c.2571G>A | XP_016873688.1:p.Gln857= | |
| XM_017018201.2:c.2574G>A | XP_016873690.1:p.Gln858= | |
| XM_017018202.1:c.1071G>A | XP_016873691.1:p.Gln357= | |
| XM_017018204.1:c.462G>A | XP_016873693.1:p.Gln154= | |
| XM_024448668.1:c.873G>A | XP_024304436.1:p.Gln291= | |
| XR_001747945.2:n.2646G>A | ||
| XR_001747946.2:n.2577G>A | ||
| XR_002957189.1:n.2646G>A | ||
| NM_000352.6:c.2505G>A MANE Select | NP_000343.2:p.Gln835= | |
| NM_001287174.2:c.2508G>A | NP_001274103.1:p.Gln836= | |
| NM_001351295.2:c.2571G>A | NP_001338224.1:p.Gln857= | |
| NM_001351296.2:c.2505G>A | NP_001338225.1:p.Gln835= | |
| NM_001351297.2:c.2502G>A | NP_001338226.1:p.Gln834= | |
| NR_147094.2:n.2574G>A | ||
| NM_001287174.3:c.2508G>A | NP_001274103.1:p.Gln836= |