Linked Data
ClinVar Variation Id:
1130586
ClinVar RCV Id:
RCV001464157
dbSNP Id:
rs2133401058
MyVariant Identifiers:
chr11:g.17417207T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395660T>A , CM000673.2:g.17395660T>A | GRCh38 |
| NC_000011.9:g.17417207T>A , CM000673.1:g.17417207T>A | GRCh37 |
| NC_000011.8:g.17373783T>A | NCBI36 |
| NG_008867.1:g.86243A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3858A>T | ||
| ENST00000528374.2:c.848A>T | ||
| ENST00000529967.6:n.2596A>T | ||
| ENST00000532220.2:n.3490A>T | ||
| ENST00000642611.2:n.5590A>T | ||
| ENST00000644057.2:n.833A>T | ||
| ENST00000645004.2:n.1756A>T | ||
| ENST00000682051.1:n.4419A>T | ||
| ENST00000682110.1:n.4472A>T | ||
| ENST00000682140.1:c.*43A>T | ENSP00000507829.1:n.*43A>T | |
| ENST00000682185.1:n.5562A>T | ||
| ENST00000682204.1:c.*2395A>T | ENSP00000507094.1:n.*2395A>T | |
| ENST00000682215.1:n.4839A>T | ||
| ENST00000682288.1:c.*2688A>T | ENSP00000507506.1:n.*2688A>T | |
| ENST00000682442.1:n.4692A>T | ||
| ENST00000682528.1:n.4549A>T | ||
| ENST00000682673.1:n.4416A>T | ||
| ENST00000682805.1:n.4877A>T | ||
| ENST00000682965.1:c.*679A>T | ENSP00000508229.1:n.*679A>T | |
| ENST00000683093.1:n.5556A>T | ||
| ENST00000683136.1:c.4140A>T | ENSP00000507768.1:p.Ser1380= | |
| ENST00000683153.1:n.4514A>T | ||
| ENST00000683365.1:n.4574A>T | ||
| ENST00000683377.1:n.4472A>T | ||
| ENST00000683456.1:c.*1394A>T | ENSP00000508318.1:n.*1394A>T | |
| ENST00000683522.1:n.4472A>T | ||
| ENST00000683562.1:c.*2426A>T | ENSP00000508265.1:n.*2426A>T | |
| ENST00000683693.1:n.6037A>T | ||
| ENST00000683725.1:c.4257A>T | ENSP00000507496.1:p.Ser1419= | |
| ENST00000684010.1:n.4467A>T | ||
| ENST00000684157.1:n.5457A>T | ||
| ENST00000684253.1:n.4375A>T | ||
| ENST00000684288.1:c.*2429A>T | ENSP00000507143.1:n.*2429A>T | |
| ENST00000684313.1:n.3904A>T | ||
| ENST00000684332.1:n.4545A>T | ||
| ENST00000684371.1:n.4578A>T | ||
| ENST00000684404.1:n.5500A>T | ||
| ENST00000684442.1:n.4696A>T | ||
| ENST00000684555.1:c.*2469A>T | ENSP00000507705.1:n.*2469A>T | |
| ENST00000684571.1:c.4098A>T | ENSP00000506935.1:p.Ser1366= | |
| ENST00000684593.1:c.*3962A>T | ENSP00000507005.1:n.*3962A>T | |
| ENST00000684711.1:c.*2653A>T | ENSP00000506841.1:n.*2653A>T | |
| ENST00000302539.9:c.4260A>T | ENSP00000303960.4:p.Ser1420= | |
| ENST00000389817.8:c.4257A>T MANE Select | ENSP00000374467.4:p.Ser1419= | |
| ENST00000642271.1:c.4254A>T | ENSP00000493749.1:p.Ser1418= | |
| ENST00000642579.1:c.2311A>T | ||
| ENST00000642611.1:n.5475A>T | ||
| ENST00000642902.1:c.4039A>T | ||
| ENST00000643260.1:c.4257A>T | ENSP00000494450.1:p.Ser1419= | |
| ENST00000643562.1:c.*2379A>T | ENSP00000496124.1:n.*2379A>T | |
| ENST00000643925.1:c.2897A>T | ||
| ENST00000644057.1:n.334A>T | ||
| ENST00000644484.1:c.*3643A>T | ENSP00000493558.1:n.*3643A>T | |
| ENST00000644675.1:c.*2429A>T | ENSP00000494567.1:n.*2429A>T | |
| ENST00000644757.1:c.*3202+604A>T | ENSP00000495085.1:n.*3202+604A>T | |
| ENST00000644772.1:c.4323A>T | ENSP00000494321.1:p.Ser1441= | |
| ENST00000645004.1:n.1950A>T | ||
| ENST00000645076.1:c.3456A>T | ||
| ENST00000645417.1:c.1445A>T | ||
| ENST00000645744.1:c.*3964-22A>T | ENSP00000494564.1:n.*3964-22A>T | |
| ENST00000645760.1:c.4678A>T | ||
| ENST00000645884.1:c.*1540A>T | ENSP00000495516.1:n.*1540A>T | |
| ENST00000646003.1:c.*2301-22A>T | ENSP00000495259.1:n.*2301-22A>T | |
| ENST00000646207.1:c.*3094A>T | ENSP00000495025.1:n.*3094A>T | |
| ENST00000646276.1:c.*3661A>T | ENSP00000496070.1:n.*3661A>T | |
| ENST00000646592.1:c.3563A>T | ||
| ENST00000646902.1:c.4224A>T | ENSP00000494101.1:p.Ser1408= | |
| ENST00000646993.1:c.*2799A>T | ENSP00000493720.1:n.*2799A>T | |
| ENST00000647013.1:c.4263A>T | ENSP00000496741.1:n.4263A>T | |
| ENST00000647015.1:c.4008A>T | ENSP00000495389.1:p.Ser1336= | |
| ENST00000647086.1:c.*3843A>T | ENSP00000493677.1:n.*3843A>T | |
| ENST00000647158.1:c.*2544A>T | ENSP00000495744.1:n.*2544A>T | |
| ENST00000302539.8:c.4260A>T | ENSP00000303960.4:p.Ser1420= | |
| ENST00000389817.7:c.4257A>T | ENSP00000374467.3:p.Ser1419= | |
| ENST00000525022.1:n.256A>T | ||
| ENST00000526037.5:n.121A>T | ||
| ENST00000526168.5:c.67-22A>T | ||
| ENST00000531642.5:c.93A>T | ||
| NM_000352.4:c.4257A>T | NP_000343.2:p.Ser1419= | |
| NM_001287174.1:c.4260A>T | NP_001274103.1:p.Ser1420= | |
| XM_011520331.1:c.4257A>T | XP_011518633.1:p.Ser1419= | |
| XM_011520332.1:c.4260A>T | XP_011518634.1:p.Ser1420= | |
| XM_011520333.1:c.2757A>T | XP_011518635.1:p.Ser919= | |
| XR_930890.1:n.4323A>T | ||
| NM_001351295.1:c.4323A>T | NP_001338224.1:p.Ser1441= | |
| NM_001351296.1:c.4257A>T | NP_001338225.1:p.Ser1419= | |
| NM_001351297.1:c.4254A>T | NP_001338226.1:p.Ser1418= | |
| NR_147094.1:n.4552A>T | ||
| XM_017018197.2:c.4326A>T | XP_016873686.1:p.Ser1442= | |
| XM_017018199.1:c.4323A>T | XP_016873688.1:p.Ser1441= | |
| XM_017018201.2:c.4326A>T | XP_016873690.1:p.Ser1442= | |
| XM_017018202.1:c.2823A>T | XP_016873691.1:p.Ser941= | |
| XM_017018204.1:c.2214A>T | XP_016873693.1:p.Ser738= | |
| XM_024448668.1:c.2625A>T | XP_024304436.1:p.Ser875= | |
| XR_001747945.2:n.4398A>T | ||
| XR_001747946.2:n.4329A>T | ||
| XR_002957189.1:n.6112A>T | ||
| NM_000352.6:c.4257A>T MANE Select | NP_000343.2:p.Ser1419= | |
| NM_001287174.2:c.4260A>T | NP_001274103.1:p.Ser1420= | |
| NM_001351295.2:c.4323A>T | NP_001338224.1:p.Ser1441= | |
| NM_001351296.2:c.4257A>T | NP_001338225.1:p.Ser1419= | |
| NM_001351297.2:c.4254A>T | NP_001338226.1:p.Ser1418= | |
| NR_147094.2:n.4552A>T | ||
| NM_001287174.3:c.4260A>T | NP_001274103.1:p.Ser1420= |