|
NM_000116.5:c.562G>T
MANE Select
|
NP_000107.1:p.Glu188Ter
|
|
ENST00000601016.6:c.562G>T
MANE Select
|
ENSP00000469981.1:p.Glu188Ter
|
|
NM_000116.4:c.562G>T
|
NP_000107.1:p.Glu188Ter
|
|
NM_001303465.1:c.595+102G>T
|
NP_001290394.1:n.595+102G>T
|
|
NM_001303465.2:c.595+102G>T
|
NP_001290394.1:n.595+102G>T
|
|
NM_181311.3:c.472G>T
|
NP_851828.1:p.Glu158Ter
|
|
NM_181311.4:c.472G>T
|
NP_851828.1:p.Glu158Ter
|
|
NM_181312.3:c.541+102G>T
|
NP_851829.1:n.541+102G>T
|
|
NM_181312.4:c.541+102G>T
|
NP_851829.1:n.541+102G>T
|
|
NM_181313.3:c.451+102G>T
|
NP_851830.1:n.451+102G>T
|
|
NM_181313.4:c.451+102G>T
|
NP_851830.1:n.451+102G>T
|
|
NR_024048.2:n.904G>T
|
|
|
NR_024048.3:n.883G>T
|
|
|
ENST00000369776.8:c.376+102G>T
|
ENSP00000358791.4:n.376+102G>T
|
|
ENST00000426231.5:c.559G>T
|
|
|
ENST00000439735.2:c.469G>T
|
ENSP00000398193.1:p.Glu157Ter
|
|
ENST00000470127.1:n.141G>T
|
|
|
ENST00000470127.2:n.750G>T
|
|
|
ENST00000475699.5:c.541+102G>T
|
ENSP00000419854.2:n.541+102G>T
|
|
ENST00000475699.6:c.526G>T
|
ENSP00000419854.3:p.Glu176Ter
|
|
ENST00000476679.5:n.556G>T
|
|
|
ENST00000483674.2:n.262G>T
|
|
|
ENST00000483674.3:n.444G>T
|
|
|
ENST00000483780.5:n.327G>T
|
|
|
ENST00000494912.5:n.1251G>T
|
|
|
ENST00000601016.5:c.562G>T
|
ENSP00000469981.1:p.Glu188Ter
|
|
ENST00000612012.4:c.526G>T
|
ENSP00000482070.1:p.Glu176Ter
|
|
ENST00000612012.5:c.541+102G>T
|
ENSP00000482070.2:n.541+102G>T
|
|
ENST00000612460.4:c.472G>T
|
ENSP00000481037.1:p.Glu158Ter
|
|
ENST00000612460.5:c.472G>T
|
ENSP00000481037.1:p.Glu158Ter
|
|
ENST00000613002.4:c.451+102G>T
|
ENSP00000478154.1:n.451+102G>T
|
|
ENST00000613634.4:n.792G>T
|
|
|
ENST00000614595.2:n.1909G>T
|
|
|
ENST00000615658.4:n.966G>T
|
|
|
ENST00000615658.5:n.866G>T
|
|
|
ENST00000615986.4:c.*290G>T
|
ENSP00000480133.1:n.*290G>T
|
|
ENST00000616020.5:c.595+102G>T
|
ENSP00000483636.2:n.595+102G>T
|
|
ENST00000617701.5:c.*290G>T
|
ENSP00000481645.1:n.*290G>T
|
|
ENST00000620808.4:c.*170-307G>T
|
ENSP00000479311.1:n.*170-307G>T
|
|
ENST00000652354.1:c.265+102G>T
|
ENSP00000498734.1:n.265+102G>T
|
|
ENST00000652358.1:c.355G>T
|
ENSP00000498464.1:p.Glu119Ter
|
|
ENST00000652390.1:c.481G>T
|
ENSP00000498858.1:p.Glu161Ter
|
|
ENST00000652476.1:n.943G>T
|
|
|
ENST00000652644.1:c.175G>T
|
ENSP00000498496.1:p.Glu59Ter
|
|
ENST00000652682.1:c.619G>T
|
ENSP00000498288.1:p.Glu207Ter
|
|
ENST00000652685.1:n.630G>T
|
|
|
ENST00000698234.1:n.1087G>T
|
|
|
ENST00000698317.1:n.1703G>T
|
|
|
ENST00000698318.1:n.1486G>T
|
|
|
ENST00000698319.1:n.849G>T
|
|
|
ENST00000698320.1:n.737G>T
|
|
|
XM_006724836.1:c.616G>T
|
XP_006724899.1:p.Glu206Ter
|
|
XM_006724837.1:c.505+102G>T
|
XP_006724900.1:n.505+102G>T
|
|
XM_006724839.1:c.505+102G>T
|
XP_006724902.1:n.505+102G>T
|
|
XM_006724841.2:c.355G>T
|
XP_006724904.1:p.Glu119Ter
|
|
XM_006724841.4:c.355G>T
|
XP_006724904.1:p.Glu119Ter
|
|
XM_006724842.2:c.265G>T
|
XP_006724905.1:p.Glu89Ter
|
|
XM_006724842.4:c.265G>T
|
XP_006724905.1:p.Glu89Ter
|
|
XM_011531189.1:c.425-307G>T
|
XP_011529491.1:n.425-307G>T
|
|
XM_011531190.1:c.355G>T
|
XP_011529492.1:p.Glu119Ter
|
|
XM_011531191.1:c.286G>T
|
XP_011529493.1:p.Glu96Ter
|
|
XM_011531191.2:c.286G>T
|
XP_011529493.1:p.Glu96Ter
|
|
XM_011531192.1:c.283G>T
|
XP_011529494.1:p.Glu95Ter
|
|
XM_017029761.1:c.451+102G>T
|
XP_016885250.1:n.451+102G>T
|
|
XM_017029762.1:c.526G>T
|
XP_016885251.1:p.Glu176Ter
|
|
XM_017029763.1:c.371-307G>T
|
XP_016885252.1:n.371-307G>T
|
|
XM_017029764.1:c.283G>T
|
XP_016885253.1:p.Glu95Ter
|
|
XM_017029765.2:c.244+102G>T
|
XP_016885254.1:n.244+102G>T
|
|
XM_024452431.1:c.425-307G>T
|
XP_024308199.1:n.425-307G>T
|
|
XR_938511.1:n.910G>T
|
|
