ENST00000524470.2:c.*1567T>A
|
ENSP00000514307.1:n.*1567T>A
|
|
ENST00000525976.6:c.3218T>A
|
ENSP00000434831.2:p.Leu1073Gln
|
|
ENST00000527481.3:c.3099T>A
|
ENSP00000466340.2:p.Pro1033=
|
|
ENST00000529370.6:n.4594T>A
|
|
|
ENST00000529739.2:n.4027T>A
|
|
|
ENST00000530829.2:c.*2769T>A
|
ENSP00000436826.2:n.*2769T>A
|
|
ENST00000531836.6:c.3218T>A
|
ENSP00000436175.2:p.Leu1073Gln
|
|
ENST00000533334.2:c.*1242+392T>A
|
ENSP00000432320.2:n.*1242+392T>A
|
|
ENST00000534228.2:n.5054+392T>A
|
|
|
ENST00000699354.1:n.1320T>A
|
|
|
ENST00000699355.1:c.*2718T>A
|
ENSP00000514328.1:n.*2718T>A
|
|
ENST00000699356.1:n.4027T>A
|
|
|
ENST00000699357.1:n.5072T>A
|
|
|
ENST00000699358.1:c.3200+392T>A
|
ENSP00000514329.1:n.3200+392T>A
|
|
ENST00000699359.1:c.392T>A
|
|
|
ENST00000699360.1:c.3176T>A
|
ENSP00000514331.1:p.Leu1059Gln
|
|
ENST00000699361.1:n.252T>A
|
|
|
ENST00000699362.1:c.114T>A
|
ENSP00000514332.1:p.Pro38=
|
|
ENST00000699363.1:c.114T>A
|
ENSP00000514333.1:p.Pro38=
|
|
ENST00000699364.1:n.218T>A
|
|
|
ENST00000699365.1:c.287T>A
|
ENSP00000514334.1:p.Leu96Gln
|
|
ENST00000699366.1:n.111+1280T>A
|
|
|
ENST00000699367.1:n.111+1280T>A
|
|
|
ENST00000699368.1:c.705T>A
|
ENSP00000514335.1:n.705T>A
|
|
ENST00000525621.6:c.3218T>A
MANE Select
|
ENSP00000431885.1:p.Leu1073Gln
|
|
ENST00000264818.10:c.3218T>A
|
ENSP00000264818.6:p.Leu1073Gln
|
|
ENST00000524462.5:c.2663T>A
|
ENSP00000433203.1:p.Leu888Gln
|
|
ENST00000525621.5:c.3218T>A
|
ENSP00000431885.1:p.Leu1073Gln
|
|
ENST00000527481.2:c.395T>A
|
|
|
ENST00000529422.1:n.116+488T>A
|
|
|
ENST00000529739.1:c.287T>A
|
ENSP00000436155.1:p.Leu96Gln
|
|
ENST00000530220.1:n.331+392T>A
|
|
|
ENST00000530560.5:c.337+1508T>A
|
ENSP00000465291.1:n.337+1508T>A
|
|
ENST00000592137.1:n.372T>A
|
|
|
NM_003331.4:c.3218T>A , LRG_121t1:c.3218T>A
|
NP_003322.3:p.Leu1073Gln
|
|
XM_011528245.1:c.3218T>A
|
XP_011526547.1:p.Leu1073Gln
|
|
XM_011528246.1:c.2921T>A
|
XP_011526548.1:p.Leu974Gln
|
|
XM_011528247.1:c.2921T>A
|
XP_011526549.1:p.Leu974Gln
|
|
XM_011528248.1:c.3200+392T>A
|
XP_011526550.1:n.3200+392T>A
|
|
XM_011528249.1:c.1892T>A
|
XP_011526551.1:p.Leu631Gln
|
|
XM_011528251.1:c.1475T>A
|
XP_011526553.1:p.Leu492Gln
|
|
XM_011528246.3:c.2921T>A
|
XP_011526548.1:p.Leu974Gln
|
|
XM_011528249.2:c.1892T>A
|
XP_011526551.1:p.Leu631Gln
|
|
XR_001753750.1:n.3357+392T>A
|
|
|
XR_001753751.1:n.3770T>A
|
|
|
XR_002958353.1:n.4696T>A
|
|
|
NM_003331.5:c.3218T>A
MANE Select
|
NP_003322.3:p.Leu1073Gln
|
|
NM_001385197.1:c.3218T>A
|
NP_001372126.1:p.Leu1073Gln
|
|
NM_001385198.1:c.3168+424T>A
|
NP_001372127.1:n.3168+424T>A
|
|
NM_001385199.1:c.3032T>A
|
NP_001372128.1:p.Leu1011Gln
|
|
NM_001385200.1:c.3215T>A
|
NP_001372129.1:p.Leu1072Gln
|
|
NM_001385201.1:c.3020T>A
|
NP_001372130.1:p.Leu1007Gln
|
|
NM_001385202.1:c.3134T>A
|
NP_001372131.1:p.Leu1045Gln
|
|
NM_001385203.1:c.3299T>A
|
NP_001372132.1:p.Leu1100Gln
|
|
NM_001385204.1:c.3428T>A
|
NP_001372133.1:p.Leu1143Gln
|
|
NM_001385205.1:c.3128T>A
|
NP_001372134.1:p.Leu1043Gln
|
|
NM_001385206.1:c.3092T>A
|
NP_001372135.1:p.Leu1031Gln
|
|
NM_001385207.1:c.3200T>A
|
NP_001372136.1:p.Leu1067Gln
|
|