ENST00000524470.2:c.*1630T>A
|
ENSP00000514307.1:n.*1630T>A
|
|
ENST00000525976.6:c.3281T>A
|
ENSP00000434831.2:p.Leu1094Gln
|
|
ENST00000527481.3:c.*51T>A
|
ENSP00000466340.2:n.*51T>A
|
|
ENST00000529370.6:n.4657T>A
|
|
|
ENST00000529739.2:n.4090T>A
|
|
|
ENST00000530829.2:c.*2832T>A
|
ENSP00000436826.2:n.*2832T>A
|
|
ENST00000531836.6:c.3281T>A
|
ENSP00000436175.2:p.Leu1094Gln
|
|
ENST00000533334.2:c.*1242+455T>A
|
ENSP00000432320.2:n.*1242+455T>A
|
|
ENST00000534228.2:n.5054+455T>A
|
|
|
ENST00000699354.1:n.1383T>A
|
|
|
ENST00000699355.1:c.*2781T>A
|
ENSP00000514328.1:n.*2781T>A
|
|
ENST00000699356.1:n.4090T>A
|
|
|
ENST00000699357.1:n.5135T>A
|
|
|
ENST00000699358.1:c.3200+455T>A
|
ENSP00000514329.1:n.3200+455T>A
|
|
ENST00000699359.1:c.455T>A
|
|
|
ENST00000699360.1:c.3239T>A
|
ENSP00000514331.1:p.Leu1080Gln
|
|
ENST00000699361.1:n.315T>A
|
|
|
ENST00000699362.1:c.177T>A
|
ENSP00000514332.1:n.177T>A
|
|
ENST00000699363.1:c.177T>A
|
ENSP00000514333.1:n.177T>A
|
|
ENST00000699364.1:n.281T>A
|
|
|
ENST00000699365.1:c.350T>A
|
ENSP00000514334.1:p.Leu117Gln
|
|
ENST00000699366.1:n.111+1343T>A
|
|
|
ENST00000699367.1:n.112-1309T>A
|
|
|
ENST00000699368.1:c.768T>A
|
ENSP00000514335.1:n.768T>A
|
|
ENST00000525621.6:c.3281T>A
MANE Select
|
ENSP00000431885.1:p.Leu1094Gln
|
|
ENST00000264818.10:c.3281T>A
|
ENSP00000264818.6:p.Leu1094Gln
|
|
ENST00000524462.5:c.2726T>A
|
ENSP00000433203.1:p.Leu909Gln
|
|
ENST00000525621.5:c.3281T>A
|
ENSP00000431885.1:p.Leu1094Gln
|
|
ENST00000525976.5:c.22T>A
|
|
|
ENST00000527481.2:c.458T>A
|
|
|
ENST00000529422.1:n.116+551T>A
|
|
|
ENST00000529739.1:c.350T>A
|
ENSP00000436155.1:p.Leu117Gln
|
|
ENST00000530220.1:n.331+455T>A
|
|
|
ENST00000530560.5:c.338-1503T>A
|
ENSP00000465291.1:n.338-1503T>A
|
|
ENST00000592137.1:n.435T>A
|
|
|
NM_003331.4:c.3281T>A , LRG_121t1:c.3281T>A
|
NP_003322.3:p.Leu1094Gln
|
|
XM_011528245.1:c.3281T>A
|
XP_011526547.1:p.Leu1094Gln
|
|
XM_011528246.1:c.2984T>A
|
XP_011526548.1:p.Leu995Gln
|
|
XM_011528247.1:c.2984T>A
|
XP_011526549.1:p.Leu995Gln
|
|
XM_011528248.1:c.3200+455T>A
|
XP_011526550.1:n.3200+455T>A
|
|
XM_011528249.1:c.1955T>A
|
XP_011526551.1:p.Leu652Gln
|
|
XM_011528251.1:c.1538T>A
|
XP_011526553.1:p.Leu513Gln
|
|
XM_011528246.3:c.2984T>A
|
XP_011526548.1:p.Leu995Gln
|
|
XM_011528249.2:c.1955T>A
|
XP_011526551.1:p.Leu652Gln
|
|
XR_001753750.1:n.3357+455T>A
|
|
|
XR_001753751.1:n.3833T>A
|
|
|
XR_002958353.1:n.4759T>A
|
|
|
NM_003331.5:c.3281T>A
MANE Select
|
NP_003322.3:p.Leu1094Gln
|
|
NM_001385197.1:c.3281T>A
|
NP_001372126.1:p.Leu1094Gln
|
|
NM_001385198.1:c.3168+487T>A
|
NP_001372127.1:n.3168+487T>A
|
|
NM_001385199.1:c.3095T>A
|
NP_001372128.1:p.Leu1032Gln
|
|
NM_001385200.1:c.3278T>A
|
NP_001372129.1:p.Leu1093Gln
|
|
NM_001385201.1:c.3083T>A
|
NP_001372130.1:p.Leu1028Gln
|
|
NM_001385202.1:c.3197T>A
|
NP_001372131.1:p.Leu1066Gln
|
|
NM_001385203.1:c.3362T>A
|
NP_001372132.1:p.Leu1121Gln
|
|
NM_001385204.1:c.3491T>A
|
NP_001372133.1:p.Leu1164Gln
|
|
NM_001385205.1:c.3191T>A
|
NP_001372134.1:p.Leu1064Gln
|
|
NM_001385206.1:c.3155T>A
|
NP_001372135.1:p.Leu1052Gln
|
|
NM_001385207.1:c.3263T>A
|
NP_001372136.1:p.Leu1088Gln
|
|