ENST00000445653.6:n.680G>C
|
|
|
ENST00000530052.2:n.1246G>C
|
|
|
ENST00000682191.1:n.706G>C
|
|
|
ENST00000682192.1:n.706G>C
|
|
|
ENST00000682232.1:c.*209G>C
|
ENSP00000507302.1:n.*209G>C
|
|
ENST00000682326.1:c.504G>C
|
ENSP00000508129.1:p.Leu168=
|
|
ENST00000682404.1:n.1246G>C
|
|
|
ENST00000682517.1:n.1246G>C
|
|
|
ENST00000682652.1:n.1475G>C
|
|
|
ENST00000682665.1:n.901G>C
|
|
|
ENST00000682691.1:n.901G>C
|
|
|
ENST00000682791.1:c.417G>C
|
ENSP00000507312.1:p.Leu139=
|
|
ENST00000682811.1:c.504G>C
|
ENSP00000508196.1:p.Leu168=
|
|
ENST00000682883.1:n.807G>C
|
|
|
ENST00000682946.1:c.504G>C
|
ENSP00000506856.1:p.Leu168=
|
|
ENST00000683143.1:c.*209G>C
|
ENSP00000507168.1:n.*209G>C
|
|
ENST00000683373.1:n.706G>C
|
|
|
ENST00000683558.1:n.706G>C
|
|
|
ENST00000683567.1:n.731G>C
|
|
|
ENST00000683955.1:n.901G>C
|
|
|
ENST00000684142.1:c.*179G>C
|
ENSP00000508008.1:n.*179G>C
|
|
ENST00000684252.1:n.901G>C
|
|
|
ENST00000684255.1:c.*209G>C
|
ENSP00000507398.1:n.*209G>C
|
|
ENST00000684315.1:n.1237G>C
|
|
|
ENST00000684345.1:c.*179G>C
|
ENSP00000507163.1:n.*179G>C
|
|
ENST00000684499.1:c.*609G>C
|
ENSP00000506800.1:n.*609G>C
|
|
ENST00000684682.1:c.169G>C
|
ENSP00000507326.1:p.Val57Leu
|
|
ENST00000354202.9:c.504G>C
MANE Select
|
ENSP00000346142.4:p.Leu168=
|
|
ENST00000636404.1:c.8G>C
|
|
|
ENST00000638850.1:c.8G>C
|
|
|
ENST00000639704.1:c.411G>C
|
ENSP00000491336.1:p.Leu137=
|
|
ENST00000640102.1:c.*157G>C
|
ENSP00000492027.1:n.*157G>C
|
|
ENST00000640747.1:c.*179G>C
|
ENSP00000492730.1:n.*179G>C
|
|
ENST00000354202.8:c.504G>C
|
ENSP00000346142.4:p.Leu168=
|
|
ENST00000392834.7:c.*209G>C
|
ENSP00000376579.3:n.*209G>C
|
|
ENST00000409993.6:c.504G>C
|
ENSP00000386597.2:p.Leu168=
|
|
ENST00000414373.5:c.*250G>C
|
ENSP00000402019.1:n.*250G>C
|
|
ENST00000442480.1:c.354G>C
|
ENSP00000406591.1:p.Leu118=
|
|
ENST00000461999.1:n.9G>C
|
|
|
ENST00000481084.5:n.1133G>C
|
|
|
ENST00000525456.5:n.507G>C
|
|
|
ENST00000530052.1:n.402G>C
|
|
|
ENST00000533687.1:n.516G>C
|
|
|
NM_001382.3:c.504G>C
|
NP_001373.2:p.Leu168=
|
|
XM_005271422.2:c.504G>C
|
XP_005271479.1:p.Leu168=
|
|
XM_011542648.1:c.183G>C
|
XP_011540950.1:p.Leu61=
|
|
XR_947801.1:n.940G>C
|
|
|
XM_005271422.3:c.504G>C
|
XP_005271479.1:p.Leu168=
|
|
XM_011542648.2:c.183G>C
|
XP_011540950.1:p.Leu61=
|
|
XM_017017293.2:c.183G>C
|
XP_016872782.1:p.Leu61=
|
|
XM_017017294.2:c.504G>C
|
XP_016872783.1:p.Leu168=
|
|
XM_017017295.1:c.-13G>C
|
XP_016872784.1:n.-13G>C
|
|
XR_001747785.2:n.727G>C
|
|
|
XR_947801.2:n.727G>C
|
|
|
NM_001382.4:c.504G>C
MANE Select
|
NP_001373.2:p.Leu168=
|
|