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ENST00000524561.2:n.3672G>A
|
|
|
|
ENST00000528374.2:c.662G>A
|
|
|
|
ENST00000529967.6:n.2410G>A
|
|
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ENST00000532220.2:n.2319G>A
|
|
|
|
ENST00000642611.2:n.4286G>A
|
|
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ENST00000644057.2:n.514G>A
|
|
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|
ENST00000645004.2:n.1570G>A
|
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ENST00000682051.1:n.4233G>A
|
|
|
|
ENST00000682110.1:n.4286G>A
|
|
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|
ENST00000682140.1:c.3985+229G>A
|
ENSP00000507829.1:n.3985+229G>A
|
|
|
ENST00000682185.1:n.5376G>A
|
|
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|
ENST00000682204.1:c.*2209G>A
|
ENSP00000507094.1:n.*2209G>A
|
|
|
ENST00000682215.1:n.4653G>A
|
|
|
|
ENST00000682288.1:c.*2502G>A
|
ENSP00000507506.1:n.*2502G>A
|
|
|
ENST00000682442.1:n.4506G>A
|
|
|
|
ENST00000682528.1:n.4363G>A
|
|
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|
ENST00000682673.1:n.4230G>A
|
|
|
|
ENST00000682805.1:n.4653G>A
|
|
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|
ENST00000682965.1:c.*493G>A
|
ENSP00000508229.1:n.*493G>A
|
|
|
ENST00000683093.1:n.4385G>A
|
|
|
|
ENST00000683136.1:c.3954G>A
|
ENSP00000507768.1:p.Leu1318=
|
|
|
ENST00000683153.1:n.4328G>A
|
|
|
|
ENST00000683365.1:n.4388G>A
|
|
|
|
ENST00000683377.1:n.4286G>A
|
|
|
|
ENST00000683456.1:c.*1208G>A
|
ENSP00000508318.1:n.*1208G>A
|
|
|
ENST00000683522.1:n.4286G>A
|
|
|
|
ENST00000683562.1:c.*2240G>A
|
ENSP00000508265.1:n.*2240G>A
|
|
|
ENST00000683693.1:n.4733G>A
|
|
|
|
ENST00000683725.1:c.4071G>A
|
ENSP00000507496.1:p.Leu1357=
|
|
|
ENST00000684010.1:n.4281G>A
|
|
|
|
ENST00000684157.1:n.4286G>A
|
|
|
|
ENST00000684253.1:n.4189G>A
|
|
|
|
ENST00000684288.1:c.*2243G>A
|
ENSP00000507143.1:n.*2243G>A
|
|
|
ENST00000684313.1:n.3718G>A
|
|
|
|
ENST00000684332.1:n.4359G>A
|
|
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|
ENST00000684371.1:n.4392G>A
|
|
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|
ENST00000684404.1:n.4329G>A
|
|
|
|
ENST00000684442.1:n.4510G>A
|
|
|
|
ENST00000684555.1:c.*2283G>A
|
ENSP00000507705.1:n.*2283G>A
|
|
|
ENST00000684571.1:c.3912G>A
|
ENSP00000506935.1:p.Leu1304=
|
|
|
ENST00000684593.1:c.*3776G>A
|
ENSP00000507005.1:n.*3776G>A
|
|
|
ENST00000684711.1:c.*2467G>A
|
ENSP00000506841.1:n.*2467G>A
|
|
|
ENST00000302539.9:c.4074G>A
|
ENSP00000303960.4:p.Leu1358=
|
|
|
ENST00000389817.8:c.4071G>A
MANE Select
|
ENSP00000374467.4:p.Leu1357=
|
|
|
ENST00000642271.1:c.4068G>A
|
ENSP00000493749.1:p.Leu1356=
|
|
|
ENST00000642579.1:c.2125G>A
|
|
|
|
ENST00000642611.1:n.4171G>A
|
|
|
|
ENST00000642902.1:c.3853G>A
|
|
|
|
ENST00000643260.1:c.4071G>A
|
ENSP00000494450.1:p.Leu1357=
|
|
|
ENST00000643562.1:c.*2193G>A
|
ENSP00000496124.1:n.*2193G>A
|
|
|
ENST00000643925.1:c.2711G>A
|
|
|
|
ENST00000644057.1:n.148G>A
|
|
|
|
ENST00000644484.1:c.*2472G>A
|
ENSP00000493558.1:n.*2472G>A
|
|
|
ENST00000644675.1:c.*2243G>A
|
ENSP00000494567.1:n.*2243G>A
|
|
|
ENST00000644757.1:c.*2502G>A
|
ENSP00000495085.1:n.*2502G>A
|
|
|
ENST00000644772.1:c.4137G>A
|
ENSP00000494321.1:p.Leu1379=
|
|
|
ENST00000645004.1:n.1726G>A
|
|
|
|
ENST00000645076.1:c.3270G>A
|
|
|
|
ENST00000645417.1:c.1259G>A
|
|
|
|
ENST00000645744.1:c.*2851G>A
|
ENSP00000494564.1:n.*2851G>A
|
|
|
ENST00000645760.1:c.4492G>A
|
|
|
|
ENST00000645884.1:c.*1354G>A
|
ENSP00000495516.1:n.*1354G>A
|
|
|
ENST00000646003.1:c.*2173G>A
|
ENSP00000495259.1:n.*2173G>A
|
|
|
ENST00000646207.1:c.*2908G>A
|
ENSP00000495025.1:n.*2908G>A
|
|
|
ENST00000646276.1:c.*2490G>A
|
ENSP00000496070.1:n.*2490G>A
|
|
|
ENST00000646592.1:c.3377G>A
|
|
|
|
ENST00000646902.1:c.4038G>A
|
ENSP00000494101.1:p.Leu1346=
|
|
|
ENST00000646993.1:c.*2613G>A
|
ENSP00000493720.1:n.*2613G>A
|
|
|
ENST00000647013.1:c.4077G>A
|
ENSP00000496741.1:n.4077G>A
|
|
|
ENST00000647015.1:c.3822G>A
|
ENSP00000495389.1:p.Leu1274=
|
|
|
ENST00000647086.1:c.*3657G>A
|
ENSP00000493677.1:n.*3657G>A
|
|
|
ENST00000647158.1:c.*2358G>A
|
ENSP00000495744.1:n.*2358G>A
|
|
|
ENST00000302539.8:c.4074G>A
|
ENSP00000303960.4:p.Leu1358=
|
|
|
ENST00000389817.7:c.4071G>A
|
ENSP00000374467.3:p.Leu1357=
|
|
|
ENST00000527905.5:c.*1093G>A
|
ENSP00000431653.1:n.*1093G>A
|
|
|
ENST00000528374.1:c.553G>A
|
|
|
|
ENST00000531137.1:n.636G>A
|
|
|
|
ENST00000531891.1:c.409G>A
|
|
|
|
ENST00000532220.1:n.545G>A
|
|
|
|
NM_000352.4:c.4071G>A
|
NP_000343.2:p.Leu1357=
|
|
|
NM_001287174.1:c.4074G>A
|
NP_001274103.1:p.Leu1358=
|
|
|
XM_011520331.1:c.4071G>A
|
XP_011518633.1:p.Leu1357=
|
|
|
XM_011520332.1:c.4074G>A
|
XP_011518634.1:p.Leu1358=
|
|
|
XM_011520333.1:c.2571G>A
|
XP_011518635.1:p.Leu857=
|
|
|
XR_930890.1:n.4137G>A
|
|
|
|
NM_001351295.1:c.4137G>A
|
NP_001338224.1:p.Leu1379=
|
|
|
NM_001351296.1:c.4071G>A
|
NP_001338225.1:p.Leu1357=
|
|
|
NM_001351297.1:c.4068G>A
|
NP_001338226.1:p.Leu1356=
|
|
|
NR_147094.1:n.4366G>A
|
|
|
|
XM_017018197.2:c.4140G>A
|
XP_016873686.1:p.Leu1380=
|
|
|
XM_017018199.1:c.4137G>A
|
XP_016873688.1:p.Leu1379=
|
|
|
XM_017018201.2:c.4140G>A
|
XP_016873690.1:p.Leu1380=
|
|
|
XM_017018202.1:c.2637G>A
|
XP_016873691.1:p.Leu879=
|
|
|
XM_017018204.1:c.2028G>A
|
XP_016873693.1:p.Leu676=
|
|
|
XM_024448668.1:c.2439G>A
|
XP_024304436.1:p.Leu813=
|
|
|
XR_001747945.2:n.4212G>A
|
|
|
|
XR_001747946.2:n.4143G>A
|
|
|
|
XR_002957189.1:n.4808G>A
|
|
|
|
NM_000352.6:c.4071G>A
MANE Select
|
NP_000343.2:p.Leu1357=
|
|
|
NM_001287174.2:c.4074G>A
|
NP_001274103.1:p.Leu1358=
|
|
|
NM_001351295.2:c.4137G>A
|
NP_001338224.1:p.Leu1379=
|
|
|
NM_001351296.2:c.4071G>A
|
NP_001338225.1:p.Leu1357=
|
|
|
NM_001351297.2:c.4068G>A
|
NP_001338226.1:p.Leu1356=
|
|
|
NR_147094.2:n.4366G>A
|
|
|
|
NM_001287174.3:c.4074G>A
|
NP_001274103.1:p.Leu1358=
|
|
