|
ENST00000524561.2:n.2741C>G
|
|
|
|
ENST00000529967.6:n.1511C>G
|
|
|
|
ENST00000532220.2:n.904C>G
|
|
|
|
ENST00000642611.2:n.3241C>G
|
|
|
|
ENST00000645004.2:n.671C>G
|
|
|
|
ENST00000682051.1:n.3188C>G
|
|
|
|
ENST00000682110.1:n.3241C>G
|
|
|
|
ENST00000682140.1:c.3169C>G
|
ENSP00000507829.1:p.Leu1057Val
|
|
|
ENST00000682185.1:n.4477C>G
|
|
|
|
ENST00000682204.1:c.*1310C>G
|
ENSP00000507094.1:n.*1310C>G
|
|
|
ENST00000682215.1:n.3238C>G
|
|
|
|
ENST00000682288.1:c.*1603C>G
|
ENSP00000507506.1:n.*1603C>G
|
|
|
ENST00000682442.1:n.3461C>G
|
|
|
|
ENST00000682528.1:n.3318C>G
|
|
|
|
ENST00000682673.1:n.3185C>G
|
|
|
|
ENST00000682805.1:n.3238C>G
|
|
|
|
ENST00000682965.1:c.3169C>G
|
ENSP00000508229.1:p.Leu1057Val
|
|
|
ENST00000683093.1:n.3340C>G
|
|
|
|
ENST00000683136.1:c.3169C>G
|
ENSP00000507768.1:p.Leu1057Val
|
|
|
ENST00000683153.1:n.3397C>G
|
|
|
|
ENST00000683365.1:n.3343C>G
|
|
|
|
ENST00000683377.1:n.3241C>G
|
|
|
|
ENST00000683456.1:c.*309C>G
|
ENSP00000508318.1:n.*309C>G
|
|
|
ENST00000683522.1:n.3241C>G
|
|
|
|
ENST00000683562.1:c.*1341C>G
|
ENSP00000508265.1:n.*1341C>G
|
|
|
ENST00000683693.1:n.3318C>G
|
|
|
|
ENST00000683725.1:c.3172C>G
|
ENSP00000507496.1:p.Leu1058Val
|
|
|
ENST00000684010.1:n.3236C>G
|
|
|
|
ENST00000684157.1:n.3241C>G
|
|
|
|
ENST00000684253.1:n.3144C>G
|
|
|
|
ENST00000684288.1:c.*1344C>G
|
ENSP00000507143.1:n.*1344C>G
|
|
|
ENST00000684313.1:n.2673C>G
|
|
|
|
ENST00000684332.1:n.3314C>G
|
|
|
|
ENST00000684371.1:n.3347C>G
|
|
|
|
ENST00000684404.1:n.3284C>G
|
|
|
|
ENST00000684442.1:n.3241C>G
|
|
|
|
ENST00000684555.1:c.*1384C>G
|
ENSP00000507705.1:n.*1384C>G
|
|
|
ENST00000684571.1:c.3013C>G
|
ENSP00000506935.1:p.Leu1005Val
|
|
|
ENST00000684593.1:c.*2877C>G
|
ENSP00000507005.1:n.*2877C>G
|
|
|
ENST00000684711.1:c.*1568C>G
|
ENSP00000506841.1:n.*1568C>G
|
|
|
ENST00000302539.9:c.3175C>G
|
ENSP00000303960.4:p.Leu1059Val
|
|
|
ENST00000389817.8:c.3172C>G
MANE Select
|
ENSP00000374467.4:p.Leu1058Val
|
|
|
ENST00000642271.1:c.3169C>G
|
ENSP00000493749.1:p.Leu1057Val
|
|
|
ENST00000642579.1:c.1256C>G
|
|
|
|
ENST00000642611.1:n.3126C>G
|
|
|
|
ENST00000642902.1:c.2954C>G
|
|
|
|
ENST00000643260.1:c.3172C>G
|
ENSP00000494450.1:p.Leu1058Val
|
|
|
ENST00000643562.1:c.*1148C>G
|
ENSP00000496124.1:n.*1148C>G
|
|
|
ENST00000643925.1:c.1296C>G
|
|
|
|
ENST00000644447.1:c.1528C>G
|
ENSP00000496282.1:p.Leu510Val
|
|
|
ENST00000644484.1:c.*1427C>G
|
ENSP00000493558.1:n.*1427C>G
|
|
|
ENST00000644542.1:c.*2976C>G
|
ENSP00000495532.1:n.*2976C>G
|
|
|
ENST00000644675.1:c.*1344C>G
|
ENSP00000494567.1:n.*1344C>G
|
|
|
ENST00000644757.1:c.*1457C>G
|
ENSP00000495085.1:n.*1457C>G
|
|
|
ENST00000644772.1:c.3238C>G
|
ENSP00000494321.1:p.Leu1080Val
|
|
|
ENST00000645004.1:n.311C>G
|
|
|
|
ENST00000645076.1:c.2371C>G
|
|
|
|
ENST00000645417.1:c.338C>G
|
|
|
|
ENST00000645744.1:c.*1436C>G
|
ENSP00000494564.1:n.*1436C>G
|
|
|
ENST00000645760.1:c.3447C>G
|
|
|
|
ENST00000645884.1:c.*309C>G
|
ENSP00000495516.1:n.*309C>G
|
|
|
ENST00000646003.1:c.*1128C>G
|
ENSP00000495259.1:n.*1128C>G
|
|
|
ENST00000646207.1:c.*1639C>G
|
ENSP00000495025.1:n.*1639C>G
|
|
|
ENST00000646276.1:c.*1445C>G
|
ENSP00000496070.1:n.*1445C>G
|
|
|
ENST00000646592.1:c.2478C>G
|
|
|
|
ENST00000646902.1:c.3169C>G
|
ENSP00000494101.1:p.Leu1057Val
|
|
|
ENST00000646993.1:c.*1568C>G
|
ENSP00000493720.1:n.*1568C>G
|
|
|
ENST00000647013.1:c.3178C>G
|
ENSP00000496741.1:n.3178C>G
|
|
|
ENST00000647015.1:c.2923C>G
|
ENSP00000495389.1:p.Leu975Val
|
|
|
ENST00000647086.1:c.*2902C>G
|
ENSP00000493677.1:n.*2902C>G
|
|
|
ENST00000647158.1:c.*1313C>G
|
ENSP00000495744.1:n.*1313C>G
|
|
|
ENST00000302539.8:c.3175C>G
|
ENSP00000303960.4:p.Leu1059Val
|
|
|
ENST00000389817.7:c.3172C>G
|
ENSP00000374467.3:p.Leu1058Val
|
|
|
ENST00000524561.1:n.304C>G
|
|
|
|
ENST00000526921.5:n.856C>G
|
|
|
|
ENST00000527905.5:c.*48C>G
|
ENSP00000431653.1:n.*48C>G
|
|
|
NM_000352.4:c.3172C>G
|
NP_000343.2:p.Leu1058Val
|
|
|
NM_001287174.1:c.3175C>G
|
NP_001274103.1:p.Leu1059Val
|
|
|
XM_011520331.1:c.3172C>G
|
XP_011518633.1:p.Leu1058Val
|
|
|
XM_011520332.1:c.3175C>G
|
XP_011518634.1:p.Leu1059Val
|
|
|
XM_011520333.1:c.1672C>G
|
XP_011518635.1:p.Leu558Val
|
|
|
XR_930890.1:n.3238C>G
|
|
|
|
XR_930891.1:n.3238C>G
|
|
|
|
XR_930892.1:n.3138C>G
|
|
|
|
XR_930893.1:n.3135C>G
|
|
|
|
NM_001351295.1:c.3238C>G
|
NP_001338224.1:p.Leu1080Val
|
|
|
NM_001351296.1:c.3172C>G
|
NP_001338225.1:p.Leu1058Val
|
|
|
NM_001351297.1:c.3169C>G
|
NP_001338226.1:p.Leu1057Val
|
|
|
NR_147094.1:n.3321C>G
|
|
|
|
XM_017018197.2:c.3241C>G
|
XP_016873686.1:p.Leu1081Val
|
|
|
XM_017018199.1:c.3238C>G
|
XP_016873688.1:p.Leu1080Val
|
|
|
XM_017018201.2:c.3241C>G
|
XP_016873690.1:p.Leu1081Val
|
|
|
XM_017018202.1:c.1738C>G
|
XP_016873691.1:p.Leu580Val
|
|
|
XM_017018204.1:c.1129C>G
|
XP_016873693.1:p.Leu377Val
|
|
|
XM_024448668.1:c.1540C>G
|
XP_024304436.1:p.Leu514Val
|
|
|
XR_001747945.2:n.3313C>G
|
|
|
|
XR_001747946.2:n.3244C>G
|
|
|
|
XR_002957189.1:n.3393C>G
|
|
|
|
NM_000352.6:c.3172C>G
MANE Select
|
NP_000343.2:p.Leu1058Val
|
|
|
NM_001287174.2:c.3175C>G
|
NP_001274103.1:p.Leu1059Val
|
|
|
NM_001351295.2:c.3238C>G
|
NP_001338224.1:p.Leu1080Val
|
|
|
NM_001351296.2:c.3172C>G
|
NP_001338225.1:p.Leu1058Val
|
|
|
NM_001351297.2:c.3169C>G
|
NP_001338226.1:p.Leu1057Val
|
|
|
NR_147094.2:n.3321C>G
|
|
|
|
NM_001287174.3:c.3175C>G
|
NP_001274103.1:p.Leu1059Val
|
|
