|
ENST00000524561.2:n.3688C>T
|
|
|
|
ENST00000528374.2:c.678C>T
|
|
|
|
ENST00000529967.6:n.2426C>T
|
|
|
|
ENST00000532220.2:n.2335C>T
|
|
|
|
ENST00000642611.2:n.4302C>T
|
|
|
|
ENST00000644057.2:n.530C>T
|
|
|
|
ENST00000645004.2:n.1586C>T
|
|
|
|
ENST00000682051.1:n.4249C>T
|
|
|
|
ENST00000682110.1:n.4302C>T
|
|
|
|
ENST00000682140.1:c.3985+245C>T
|
ENSP00000507829.1:n.3985+245C>T
|
|
|
ENST00000682185.1:n.5392C>T
|
|
|
|
ENST00000682204.1:c.*2225C>T
|
ENSP00000507094.1:n.*2225C>T
|
|
|
ENST00000682215.1:n.4669C>T
|
|
|
|
ENST00000682288.1:c.*2518C>T
|
ENSP00000507506.1:n.*2518C>T
|
|
|
ENST00000682442.1:n.4522C>T
|
|
|
|
ENST00000682528.1:n.4379C>T
|
|
|
|
ENST00000682673.1:n.4246C>T
|
|
|
|
ENST00000682805.1:n.4669C>T
|
|
|
|
ENST00000682965.1:c.*509C>T
|
ENSP00000508229.1:n.*509C>T
|
|
|
ENST00000683093.1:n.4401C>T
|
|
|
|
ENST00000683136.1:c.3970C>T
|
ENSP00000507768.1:p.His1324Tyr
|
|
|
ENST00000683153.1:n.4344C>T
|
|
|
|
ENST00000683365.1:n.4404C>T
|
|
|
|
ENST00000683377.1:n.4302C>T
|
|
|
|
ENST00000683456.1:c.*1224C>T
|
ENSP00000508318.1:n.*1224C>T
|
|
|
ENST00000683522.1:n.4302C>T
|
|
|
|
ENST00000683562.1:c.*2256C>T
|
ENSP00000508265.1:n.*2256C>T
|
|
|
ENST00000683693.1:n.4749C>T
|
|
|
|
ENST00000683725.1:c.4087C>T
|
ENSP00000507496.1:p.His1363Tyr
|
|
|
ENST00000684010.1:n.4297C>T
|
|
|
|
ENST00000684157.1:n.4302C>T
|
|
|
|
ENST00000684253.1:n.4205C>T
|
|
|
|
ENST00000684288.1:c.*2259C>T
|
ENSP00000507143.1:n.*2259C>T
|
|
|
ENST00000684313.1:n.3734C>T
|
|
|
|
ENST00000684332.1:n.4375C>T
|
|
|
|
ENST00000684371.1:n.4408C>T
|
|
|
|
ENST00000684404.1:n.4345C>T
|
|
|
|
ENST00000684442.1:n.4526C>T
|
|
|
|
ENST00000684555.1:c.*2299C>T
|
ENSP00000507705.1:n.*2299C>T
|
|
|
ENST00000684571.1:c.3928C>T
|
ENSP00000506935.1:p.His1310Tyr
|
|
|
ENST00000684593.1:c.*3792C>T
|
ENSP00000507005.1:n.*3792C>T
|
|
|
ENST00000684711.1:c.*2483C>T
|
ENSP00000506841.1:n.*2483C>T
|
|
|
ENST00000302539.9:c.4090C>T
|
ENSP00000303960.4:p.His1364Tyr
|
|
|
ENST00000389817.8:c.4087C>T
MANE Select
|
ENSP00000374467.4:p.His1363Tyr
|
|
|
ENST00000642271.1:c.4084C>T
|
ENSP00000493749.1:p.His1362Tyr
|
|
|
ENST00000642579.1:c.2141C>T
|
|
|
|
ENST00000642611.1:n.4187C>T
|
|
|
|
ENST00000642902.1:c.3869C>T
|
|
|
|
ENST00000643260.1:c.4087C>T
|
ENSP00000494450.1:p.His1363Tyr
|
|
|
ENST00000643562.1:c.*2209C>T
|
ENSP00000496124.1:n.*2209C>T
|
|
|
ENST00000643925.1:c.2727C>T
|
|
|
|
ENST00000644057.1:n.164C>T
|
|
|
|
ENST00000644484.1:c.*2488C>T
|
ENSP00000493558.1:n.*2488C>T
|
|
|
ENST00000644675.1:c.*2259C>T
|
ENSP00000494567.1:n.*2259C>T
|
|
|
ENST00000644757.1:c.*2518C>T
|
ENSP00000495085.1:n.*2518C>T
|
|
|
ENST00000644772.1:c.4153C>T
|
ENSP00000494321.1:p.His1385Tyr
|
|
|
ENST00000645004.1:n.1742C>T
|
|
|
|
ENST00000645076.1:c.3286C>T
|
|
|
|
ENST00000645417.1:c.1275C>T
|
|
|
|
ENST00000645744.1:c.*2867C>T
|
ENSP00000494564.1:n.*2867C>T
|
|
|
ENST00000645760.1:c.4508C>T
|
|
|
|
ENST00000645884.1:c.*1370C>T
|
ENSP00000495516.1:n.*1370C>T
|
|
|
ENST00000646003.1:c.*2189C>T
|
ENSP00000495259.1:n.*2189C>T
|
|
|
ENST00000646207.1:c.*2924C>T
|
ENSP00000495025.1:n.*2924C>T
|
|
|
ENST00000646276.1:c.*2506C>T
|
ENSP00000496070.1:n.*2506C>T
|
|
|
ENST00000646592.1:c.3393C>T
|
|
|
|
ENST00000646902.1:c.4054C>T
|
ENSP00000494101.1:p.His1352Tyr
|
|
|
ENST00000646993.1:c.*2629C>T
|
ENSP00000493720.1:n.*2629C>T
|
|
|
ENST00000647013.1:c.4093C>T
|
ENSP00000496741.1:n.4093C>T
|
|
|
ENST00000647015.1:c.3838C>T
|
ENSP00000495389.1:p.His1280Tyr
|
|
|
ENST00000647086.1:c.*3673C>T
|
ENSP00000493677.1:n.*3673C>T
|
|
|
ENST00000647158.1:c.*2374C>T
|
ENSP00000495744.1:n.*2374C>T
|
|
|
ENST00000302539.8:c.4090C>T
|
ENSP00000303960.4:p.His1364Tyr
|
|
|
ENST00000389817.7:c.4087C>T
|
ENSP00000374467.3:p.His1363Tyr
|
|
|
ENST00000527905.5:c.*1109C>T
|
ENSP00000431653.1:n.*1109C>T
|
|
|
ENST00000528374.1:c.569C>T
|
|
|
|
ENST00000531137.1:n.652C>T
|
|
|
|
ENST00000531891.1:c.425C>T
|
|
|
|
ENST00000532220.1:n.561C>T
|
|
|
|
NM_000352.4:c.4087C>T
|
NP_000343.2:p.His1363Tyr
|
|
|
NM_001287174.1:c.4090C>T
|
NP_001274103.1:p.His1364Tyr
|
|
|
XM_011520331.1:c.4087C>T
|
XP_011518633.1:p.His1363Tyr
|
|
|
XM_011520332.1:c.4090C>T
|
XP_011518634.1:p.His1364Tyr
|
|
|
XM_011520333.1:c.2587C>T
|
XP_011518635.1:p.His863Tyr
|
|
|
XR_930890.1:n.4153C>T
|
|
|
|
NM_001351295.1:c.4153C>T
|
NP_001338224.1:p.His1385Tyr
|
|
|
NM_001351296.1:c.4087C>T
|
NP_001338225.1:p.His1363Tyr
|
|
|
NM_001351297.1:c.4084C>T
|
NP_001338226.1:p.His1362Tyr
|
|
|
NR_147094.1:n.4382C>T
|
|
|
|
XM_017018197.2:c.4156C>T
|
XP_016873686.1:p.His1386Tyr
|
|
|
XM_017018199.1:c.4153C>T
|
XP_016873688.1:p.His1385Tyr
|
|
|
XM_017018201.2:c.4156C>T
|
XP_016873690.1:p.His1386Tyr
|
|
|
XM_017018202.1:c.2653C>T
|
XP_016873691.1:p.His885Tyr
|
|
|
XM_017018204.1:c.2044C>T
|
XP_016873693.1:p.His682Tyr
|
|
|
XM_024448668.1:c.2455C>T
|
XP_024304436.1:p.His819Tyr
|
|
|
XR_001747945.2:n.4228C>T
|
|
|
|
XR_001747946.2:n.4159C>T
|
|
|
|
XR_002957189.1:n.4824C>T
|
|
|
|
NM_000352.6:c.4087C>T
MANE Select
|
NP_000343.2:p.His1363Tyr
|
|
|
NM_001287174.2:c.4090C>T
|
NP_001274103.1:p.His1364Tyr
|
|
|
NM_001351295.2:c.4153C>T
|
NP_001338224.1:p.His1385Tyr
|
|
|
NM_001351296.2:c.4087C>T
|
NP_001338225.1:p.His1363Tyr
|
|
|
NM_001351297.2:c.4084C>T
|
NP_001338226.1:p.His1362Tyr
|
|
|
NR_147094.2:n.4382C>T
|
|
|
|
NM_001287174.3:c.4090C>T
|
NP_001274103.1:p.His1364Tyr
|
|
