|
ENST00000524561.2:n.3671T>A
|
|
|
|
ENST00000528374.2:c.661T>A
|
|
|
|
ENST00000529967.6:n.2409T>A
|
|
|
|
ENST00000532220.2:n.2318T>A
|
|
|
|
ENST00000642611.2:n.4285T>A
|
|
|
|
ENST00000644057.2:n.513T>A
|
|
|
|
ENST00000645004.2:n.1569T>A
|
|
|
|
ENST00000682051.1:n.4232T>A
|
|
|
|
ENST00000682110.1:n.4285T>A
|
|
|
|
ENST00000682140.1:c.3985+228T>A
|
ENSP00000507829.1:n.3985+228T>A
|
|
|
ENST00000682185.1:n.5375T>A
|
|
|
|
ENST00000682204.1:c.*2208T>A
|
ENSP00000507094.1:n.*2208T>A
|
|
|
ENST00000682215.1:n.4652T>A
|
|
|
|
ENST00000682288.1:c.*2501T>A
|
ENSP00000507506.1:n.*2501T>A
|
|
|
ENST00000682442.1:n.4505T>A
|
|
|
|
ENST00000682528.1:n.4362T>A
|
|
|
|
ENST00000682673.1:n.4229T>A
|
|
|
|
ENST00000682805.1:n.4652T>A
|
|
|
|
ENST00000682965.1:c.*492T>A
|
ENSP00000508229.1:n.*492T>A
|
|
|
ENST00000683093.1:n.4384T>A
|
|
|
|
ENST00000683136.1:c.3953T>A
|
ENSP00000507768.1:p.Leu1318Gln
|
|
|
ENST00000683153.1:n.4327T>A
|
|
|
|
ENST00000683365.1:n.4387T>A
|
|
|
|
ENST00000683377.1:n.4285T>A
|
|
|
|
ENST00000683456.1:c.*1207T>A
|
ENSP00000508318.1:n.*1207T>A
|
|
|
ENST00000683522.1:n.4285T>A
|
|
|
|
ENST00000683562.1:c.*2239T>A
|
ENSP00000508265.1:n.*2239T>A
|
|
|
ENST00000683693.1:n.4732T>A
|
|
|
|
ENST00000683725.1:c.4070T>A
|
ENSP00000507496.1:p.Leu1357Gln
|
|
|
ENST00000684010.1:n.4280T>A
|
|
|
|
ENST00000684157.1:n.4285T>A
|
|
|
|
ENST00000684253.1:n.4188T>A
|
|
|
|
ENST00000684288.1:c.*2242T>A
|
ENSP00000507143.1:n.*2242T>A
|
|
|
ENST00000684313.1:n.3717T>A
|
|
|
|
ENST00000684332.1:n.4358T>A
|
|
|
|
ENST00000684371.1:n.4391T>A
|
|
|
|
ENST00000684404.1:n.4328T>A
|
|
|
|
ENST00000684442.1:n.4509T>A
|
|
|
|
ENST00000684555.1:c.*2282T>A
|
ENSP00000507705.1:n.*2282T>A
|
|
|
ENST00000684571.1:c.3911T>A
|
ENSP00000506935.1:p.Leu1304Gln
|
|
|
ENST00000684593.1:c.*3775T>A
|
ENSP00000507005.1:n.*3775T>A
|
|
|
ENST00000684711.1:c.*2466T>A
|
ENSP00000506841.1:n.*2466T>A
|
|
|
ENST00000302539.9:c.4073T>A
|
ENSP00000303960.4:p.Leu1358Gln
|
|
|
ENST00000389817.8:c.4070T>A
MANE Select
|
ENSP00000374467.4:p.Leu1357Gln
|
|
|
ENST00000642271.1:c.4067T>A
|
ENSP00000493749.1:p.Leu1356Gln
|
|
|
ENST00000642579.1:c.2124T>A
|
|
|
|
ENST00000642611.1:n.4170T>A
|
|
|
|
ENST00000642902.1:c.3852T>A
|
|
|
|
ENST00000643260.1:c.4070T>A
|
ENSP00000494450.1:p.Leu1357Gln
|
|
|
ENST00000643562.1:c.*2192T>A
|
ENSP00000496124.1:n.*2192T>A
|
|
|
ENST00000643925.1:c.2710T>A
|
|
|
|
ENST00000644057.1:n.147T>A
|
|
|
|
ENST00000644484.1:c.*2471T>A
|
ENSP00000493558.1:n.*2471T>A
|
|
|
ENST00000644675.1:c.*2242T>A
|
ENSP00000494567.1:n.*2242T>A
|
|
|
ENST00000644757.1:c.*2501T>A
|
ENSP00000495085.1:n.*2501T>A
|
|
|
ENST00000644772.1:c.4136T>A
|
ENSP00000494321.1:p.Leu1379Gln
|
|
|
ENST00000645004.1:n.1725T>A
|
|
|
|
ENST00000645076.1:c.3269T>A
|
|
|
|
ENST00000645417.1:c.1258T>A
|
|
|
|
ENST00000645744.1:c.*2850T>A
|
ENSP00000494564.1:n.*2850T>A
|
|
|
ENST00000645760.1:c.4491T>A
|
|
|
|
ENST00000645884.1:c.*1353T>A
|
ENSP00000495516.1:n.*1353T>A
|
|
|
ENST00000646003.1:c.*2172T>A
|
ENSP00000495259.1:n.*2172T>A
|
|
|
ENST00000646207.1:c.*2907T>A
|
ENSP00000495025.1:n.*2907T>A
|
|
|
ENST00000646276.1:c.*2489T>A
|
ENSP00000496070.1:n.*2489T>A
|
|
|
ENST00000646592.1:c.3376T>A
|
|
|
|
ENST00000646902.1:c.4037T>A
|
ENSP00000494101.1:p.Leu1346Gln
|
|
|
ENST00000646993.1:c.*2612T>A
|
ENSP00000493720.1:n.*2612T>A
|
|
|
ENST00000647013.1:c.4076T>A
|
ENSP00000496741.1:n.4076T>A
|
|
|
ENST00000647015.1:c.3821T>A
|
ENSP00000495389.1:p.Leu1274Gln
|
|
|
ENST00000647086.1:c.*3656T>A
|
ENSP00000493677.1:n.*3656T>A
|
|
|
ENST00000647158.1:c.*2357T>A
|
ENSP00000495744.1:n.*2357T>A
|
|
|
ENST00000302539.8:c.4073T>A
|
ENSP00000303960.4:p.Leu1358Gln
|
|
|
ENST00000389817.7:c.4070T>A
|
ENSP00000374467.3:p.Leu1357Gln
|
|
|
ENST00000527905.5:c.*1092T>A
|
ENSP00000431653.1:n.*1092T>A
|
|
|
ENST00000528374.1:c.552T>A
|
|
|
|
ENST00000531137.1:n.635T>A
|
|
|
|
ENST00000531891.1:c.408T>A
|
|
|
|
ENST00000532220.1:n.544T>A
|
|
|
|
NM_000352.4:c.4070T>A
|
NP_000343.2:p.Leu1357Gln
|
|
|
NM_001287174.1:c.4073T>A
|
NP_001274103.1:p.Leu1358Gln
|
|
|
XM_011520331.1:c.4070T>A
|
XP_011518633.1:p.Leu1357Gln
|
|
|
XM_011520332.1:c.4073T>A
|
XP_011518634.1:p.Leu1358Gln
|
|
|
XM_011520333.1:c.2570T>A
|
XP_011518635.1:p.Leu857Gln
|
|
|
XR_930890.1:n.4136T>A
|
|
|
|
NM_001351295.1:c.4136T>A
|
NP_001338224.1:p.Leu1379Gln
|
|
|
NM_001351296.1:c.4070T>A
|
NP_001338225.1:p.Leu1357Gln
|
|
|
NM_001351297.1:c.4067T>A
|
NP_001338226.1:p.Leu1356Gln
|
|
|
NR_147094.1:n.4365T>A
|
|
|
|
XM_017018197.2:c.4139T>A
|
XP_016873686.1:p.Leu1380Gln
|
|
|
XM_017018199.1:c.4136T>A
|
XP_016873688.1:p.Leu1379Gln
|
|
|
XM_017018201.2:c.4139T>A
|
XP_016873690.1:p.Leu1380Gln
|
|
|
XM_017018202.1:c.2636T>A
|
XP_016873691.1:p.Leu879Gln
|
|
|
XM_017018204.1:c.2027T>A
|
XP_016873693.1:p.Leu676Gln
|
|
|
XM_024448668.1:c.2438T>A
|
XP_024304436.1:p.Leu813Gln
|
|
|
XR_001747945.2:n.4211T>A
|
|
|
|
XR_001747946.2:n.4142T>A
|
|
|
|
XR_002957189.1:n.4807T>A
|
|
|
|
NM_000352.6:c.4070T>A
MANE Select
|
NP_000343.2:p.Leu1357Gln
|
|
|
NM_001287174.2:c.4073T>A
|
NP_001274103.1:p.Leu1358Gln
|
|
|
NM_001351295.2:c.4136T>A
|
NP_001338224.1:p.Leu1379Gln
|
|
|
NM_001351296.2:c.4070T>A
|
NP_001338225.1:p.Leu1357Gln
|
|
|
NM_001351297.2:c.4067T>A
|
NP_001338226.1:p.Leu1356Gln
|
|
|
NR_147094.2:n.4365T>A
|
|
|
|
NM_001287174.3:c.4073T>A
|
NP_001274103.1:p.Leu1358Gln
|
|
