|
ENST00000524470.2:c.*1569A>G
|
ENSP00000514307.1:n.*1569A>G
|
|
|
ENST00000525976.6:c.3220A>G
|
ENSP00000434831.2:p.Lys1074Glu
|
|
|
ENST00000527481.3:c.3101A>G
|
ENSP00000466340.2:p.Glu1034Gly
|
|
|
ENST00000529370.6:n.4596A>G
|
|
|
|
ENST00000529739.2:n.4029A>G
|
|
|
|
ENST00000530829.2:c.*2771A>G
|
ENSP00000436826.2:n.*2771A>G
|
|
|
ENST00000531836.6:c.3220A>G
|
ENSP00000436175.2:p.Lys1074Glu
|
|
|
ENST00000533334.2:c.*1242+394A>G
|
ENSP00000432320.2:n.*1242+394A>G
|
|
|
ENST00000534228.2:n.5054+394A>G
|
|
|
|
ENST00000699354.1:n.1322A>G
|
|
|
|
ENST00000699355.1:c.*2720A>G
|
ENSP00000514328.1:n.*2720A>G
|
|
|
ENST00000699356.1:n.4029A>G
|
|
|
|
ENST00000699357.1:n.5074A>G
|
|
|
|
ENST00000699358.1:c.3200+394A>G
|
ENSP00000514329.1:n.3200+394A>G
|
|
|
ENST00000699359.1:c.394A>G
|
|
|
|
ENST00000699360.1:c.3178A>G
|
ENSP00000514331.1:p.Lys1060Glu
|
|
|
ENST00000699361.1:n.254A>G
|
|
|
|
ENST00000699362.1:c.116A>G
|
ENSP00000514332.1:p.Glu39Gly
|
|
|
ENST00000699363.1:c.116A>G
|
ENSP00000514333.1:p.Glu39Gly
|
|
|
ENST00000699364.1:n.220A>G
|
|
|
|
ENST00000699365.1:c.289A>G
|
ENSP00000514334.1:p.Lys97Glu
|
|
|
ENST00000699366.1:n.111+1282A>G
|
|
|
|
ENST00000699367.1:n.111+1282A>G
|
|
|
|
ENST00000699368.1:c.707A>G
|
ENSP00000514335.1:n.707A>G
|
|
|
ENST00000525621.6:c.3220A>G
MANE Select
|
ENSP00000431885.1:p.Lys1074Glu
|
|
|
ENST00000264818.10:c.3220A>G
|
ENSP00000264818.6:p.Lys1074Glu
|
|
|
ENST00000524462.5:c.2665A>G
|
ENSP00000433203.1:p.Lys889Glu
|
|
|
ENST00000525621.5:c.3220A>G
|
ENSP00000431885.1:p.Lys1074Glu
|
|
|
ENST00000527481.2:c.397A>G
|
|
|
|
ENST00000529422.1:n.116+490A>G
|
|
|
|
ENST00000529739.1:c.289A>G
|
ENSP00000436155.1:p.Lys97Glu
|
|
|
ENST00000530220.1:n.331+394A>G
|
|
|
|
ENST00000530560.5:c.337+1510A>G
|
ENSP00000465291.1:n.337+1510A>G
|
|
|
ENST00000592137.1:n.374A>G
|
|
|
|
NM_003331.4:c.3220A>G , LRG_121t1:c.3220A>G
|
NP_003322.3:p.Lys1074Glu
|
|
|
XM_011528245.1:c.3220A>G
|
XP_011526547.1:p.Lys1074Glu
|
|
|
XM_011528246.1:c.2923A>G
|
XP_011526548.1:p.Lys975Glu
|
|
|
XM_011528247.1:c.2923A>G
|
XP_011526549.1:p.Lys975Glu
|
|
|
XM_011528248.1:c.3200+394A>G
|
XP_011526550.1:n.3200+394A>G
|
|
|
XM_011528249.1:c.1894A>G
|
XP_011526551.1:p.Lys632Glu
|
|
|
XM_011528251.1:c.1477A>G
|
XP_011526553.1:p.Lys493Glu
|
|
|
XM_011528246.3:c.2923A>G
|
XP_011526548.1:p.Lys975Glu
|
|
|
XM_011528249.2:c.1894A>G
|
XP_011526551.1:p.Lys632Glu
|
|
|
XR_001753750.1:n.3357+394A>G
|
|
|
|
XR_001753751.1:n.3772A>G
|
|
|
|
XR_002958353.1:n.4698A>G
|
|
|
|
NM_003331.5:c.3220A>G
MANE Select
|
NP_003322.3:p.Lys1074Glu
|
|
|
NM_001385197.1:c.3220A>G
|
NP_001372126.1:p.Lys1074Glu
|
|
|
NM_001385198.1:c.3168+426A>G
|
NP_001372127.1:n.3168+426A>G
|
|
|
NM_001385199.1:c.3034A>G
|
NP_001372128.1:p.Lys1012Glu
|
|
|
NM_001385200.1:c.3217A>G
|
NP_001372129.1:p.Lys1073Glu
|
|
|
NM_001385201.1:c.3022A>G
|
NP_001372130.1:p.Lys1008Glu
|
|
|
NM_001385202.1:c.3136A>G
|
NP_001372131.1:p.Lys1046Glu
|
|
|
NM_001385203.1:c.3301A>G
|
NP_001372132.1:p.Lys1101Glu
|
|
|
NM_001385204.1:c.3430A>G
|
NP_001372133.1:p.Lys1144Glu
|
|
|
NM_001385205.1:c.3130A>G
|
NP_001372134.1:p.Lys1044Glu
|
|
|
NM_001385206.1:c.3094A>G
|
NP_001372135.1:p.Lys1032Glu
|
|
|
NM_001385207.1:c.3202A>G
|
NP_001372136.1:p.Lys1068Glu
|
|
