|
ENST00000321264.9:c.1062G>A
MANE Select
|
ENSP00000315351.4:p.Leu354=
|
|
|
ENST00000321264.8:c.1062G>A
|
ENSP00000315351.4:p.Leu354=
|
|
|
ENST00000400769.6:c.854-4539G>A
|
ENSP00000383580.2:n.854-4539G>A
|
|
|
ENST00000403782.5:c.660G>A
|
ENSP00000384723.1:p.Leu220=
|
|
|
ENST00000432449.1:c.322G>A
|
|
|
|
ENST00000436747.5:c.*1378G>A
|
ENSP00000400212.1:n.*1378G>A
|
|
|
ENST00000454048.1:c.165G>A
|
ENSP00000404596.1:p.Leu55=
|
|
|
ENST00000467427.5:n.389+1016G>A
|
|
|
|
ENST00000470343.5:n.543G>A
|
|
|
|
ENST00000473126.1:n.261G>A
|
|
|
|
ENST00000486953.5:n.163+1016G>A
|
|
|
|
ENST00000496252.5:n.417G>A
|
|
|
|
NM_001287249.1:c.660G>A
|
NP_001274178.1:p.Leu220=
|
|
|
NM_152783.4:c.1062G>A
|
NP_689996.4:p.Leu354=
|
|
|
NR_109778.1:n.1063-4539G>A
|
|
|
|
XM_011511734.1:c.1140G>A
|
XP_011510036.1:p.Leu380=
|
|
|
XM_011511735.1:c.1140G>A
|
XP_011510037.1:p.Leu380=
|
|
|
XM_011511736.1:c.1062G>A
|
XP_011510038.1:p.Leu354=
|
|
|
XM_011511737.1:c.1140G>A
|
XP_011510039.1:p.Leu380=
|
|
|
XM_011511742.1:c.1277G>A
|
XP_011510044.1:p.Trp426Ter
|
|
|
XM_011511743.1:c.1277G>A
|
XP_011510045.1:p.Trp426Ter
|
|
|
XM_011511744.1:c.1277G>A
|
XP_011510046.1:p.Trp426Ter
|
|
|
XM_011511745.1:c.1140G>A
|
XP_011510047.1:p.Leu380=
|
|
|
XM_011511748.1:c.1211G>A
|
XP_011510050.1:p.Trp404Ter
|
|
|
XM_011511749.1:c.1179+1016G>A
|
XP_011510051.1:n.1179+1016G>A
|
|
|
XM_011511750.1:c.1140G>A
|
XP_011510052.1:p.Leu380=
|
|
|
XM_011511751.1:c.1212+731G>A
|
XP_011510053.1:n.1212+731G>A
|
|
|
XM_011511753.1:c.1075+1016G>A
|
XP_011510055.1:n.1075+1016G>A
|
|
|
XM_011511754.1:c.579G>A
|
XP_011510056.1:p.Leu193=
|
|
|
XM_011511755.1:c.570G>A
|
XP_011510057.1:p.Leu190=
|
|
|
XM_011511756.1:c.853+6433G>A
|
XP_011510058.1:n.853+6433G>A
|
|
|
XM_011511757.1:c.*78G>A
|
XP_011510059.1:n.*78G>A
|
|
|
XR_241434.3:n.1401G>A
|
|
|
|
XR_923003.1:n.1923G>A
|
|
|
|
XR_923004.1:n.1694G>A
|
|
|
|
XR_923005.1:n.1437G>A
|
|
|
|
XR_923006.1:n.1437G>A
|
|
|
|
XR_923007.1:n.1404G>A
|
|
|
|
XR_923008.1:n.1300G>A
|
|
|
|
XR_923009.1:n.1300G>A
|
|
|
|
XR_923010.1:n.1734G>A
|
|
|
|
XR_923011.1:n.1505G>A
|
|
|
|
XR_923012.1:n.1439G>A
|
|
|
|
XR_923014.1:n.1014-4539G>A
|
|
|
|
NM_001352824.1:c.501G>A
|
NP_001339753.1:p.Leu167=
|
|
|
XM_011511734.2:c.1140G>A
|
XP_011510036.1:p.Leu380=
|
|
|
XM_011511735.2:c.1140G>A
|
XP_011510037.1:p.Leu380=
|
|
|
XM_011511736.2:c.1062G>A
|
XP_011510038.1:p.Leu354=
|
|
|
XM_011511737.3:c.1140G>A
|
XP_011510039.1:p.Leu380=
|
|
|
XM_011511743.2:c.1277G>A
|
XP_011510045.1:p.Trp426Ter
|
|
|
XM_011511744.2:c.1277G>A
|
XP_011510046.1:p.Trp426Ter
|
|
|
XM_011511745.3:c.1140G>A
|
XP_011510047.1:p.Leu380=
|
|
|
XM_011511749.3:c.1179+1016G>A
|
XP_011510051.1:n.1179+1016G>A
|
|
|
XM_011511750.3:c.1140G>A
|
XP_011510052.1:p.Leu380=
|
|
|
XM_011511751.2:c.1212+731G>A
|
XP_011510053.1:n.1212+731G>A
|
|
|
XM_011511753.3:c.1075+1016G>A
|
XP_011510055.1:n.1075+1016G>A
|
|
|
XM_011511756.2:c.853+6433G>A
|
XP_011510058.1:n.853+6433G>A
|
|
|
XM_017004828.2:c.1062G>A
|
XP_016860317.1:p.Leu354=
|
|
|
XM_017004829.2:c.1277G>A
|
XP_016860318.1:p.Trp426Ter
|
|
|
XM_017004830.2:c.1140G>A
|
XP_016860319.1:p.Leu380=
|
|
|
XM_024453102.1:c.912G>A
|
XP_024308870.1:p.Leu304=
|
|
|
XR_001738918.2:n.1436G>A
|
|
|
|
XR_001738919.2:n.1370G>A
|
|
|
|
XR_002959334.1:n.1922G>A
|
|
|
|
XR_002959335.1:n.1566G>A
|
|
|
|
XR_241434.4:n.1400G>A
|
|
|
|
XR_923004.3:n.1693G>A
|
|
|
|
XR_923005.2:n.1436G>A
|
|
|
|
XR_923007.3:n.1403G>A
|
|
|
|
XR_923009.2:n.1299G>A
|
|
|
|
XR_923010.2:n.1733G>A
|
|
|
|
XR_923011.3:n.1504G>A
|
|
|
|
XR_923012.2:n.1438G>A
|
|
|
|
XR_923014.3:n.1013-4539G>A
|
|
|
|
NM_152783.5:c.1062G>A
MANE Select
|
NP_689996.4:p.Leu354=
|
|
|
NM_001287249.2:c.660G>A
|
NP_001274178.1:p.Leu220=
|
|
|
NM_001352824.2:c.501G>A
|
NP_001339753.1:p.Leu167=
|
|
|
NR_109778.2:n.1012-4539G>A
|
|
|
