ENST00000524470.2:c.*1592G>C
|
ENSP00000514307.1:n.*1592G>C
|
|
ENST00000525976.6:c.3243G>C
|
ENSP00000434831.2:p.Ala1081=
|
|
ENST00000527481.3:c.*13G>C
|
ENSP00000466340.2:n.*13G>C
|
|
ENST00000529370.6:n.4619G>C
|
|
|
ENST00000529739.2:n.4052G>C
|
|
|
ENST00000530829.2:c.*2794G>C
|
ENSP00000436826.2:n.*2794G>C
|
|
ENST00000531836.6:c.3243G>C
|
ENSP00000436175.2:p.Ala1081=
|
|
ENST00000533334.2:c.*1242+417G>C
|
ENSP00000432320.2:n.*1242+417G>C
|
|
ENST00000534228.2:n.5054+417G>C
|
|
|
ENST00000699354.1:n.1345G>C
|
|
|
ENST00000699355.1:c.*2743G>C
|
ENSP00000514328.1:n.*2743G>C
|
|
ENST00000699356.1:n.4052G>C
|
|
|
ENST00000699357.1:n.5097G>C
|
|
|
ENST00000699358.1:c.3200+417G>C
|
ENSP00000514329.1:n.3200+417G>C
|
|
ENST00000699359.1:c.417G>C
|
|
|
ENST00000699360.1:c.3201G>C
|
ENSP00000514331.1:p.Ala1067=
|
|
ENST00000699361.1:n.277G>C
|
|
|
ENST00000699362.1:c.139G>C
|
ENSP00000514332.1:n.139G>C
|
|
ENST00000699363.1:c.139G>C
|
ENSP00000514333.1:n.139G>C
|
|
ENST00000699364.1:n.243G>C
|
|
|
ENST00000699365.1:c.312G>C
|
ENSP00000514334.1:p.Ala104=
|
|
ENST00000699366.1:n.111+1305G>C
|
|
|
ENST00000699367.1:n.111+1305G>C
|
|
|
ENST00000699368.1:c.730G>C
|
ENSP00000514335.1:n.730G>C
|
|
ENST00000525621.6:c.3243G>C
MANE Select
|
ENSP00000431885.1:p.Ala1081=
|
|
ENST00000264818.10:c.3243G>C
|
ENSP00000264818.6:p.Ala1081=
|
|
ENST00000524462.5:c.2688G>C
|
ENSP00000433203.1:p.Ala896=
|
|
ENST00000525621.5:c.3243G>C
|
ENSP00000431885.1:p.Ala1081=
|
|
ENST00000527481.2:c.420G>C
|
|
|
ENST00000529422.1:n.116+513G>C
|
|
|
ENST00000529739.1:c.312G>C
|
ENSP00000436155.1:p.Ala104=
|
|
ENST00000530220.1:n.331+417G>C
|
|
|
ENST00000530560.5:c.337+1533G>C
|
ENSP00000465291.1:n.337+1533G>C
|
|
ENST00000592137.1:n.397G>C
|
|
|
NM_003331.4:c.3243G>C , LRG_121t1:c.3243G>C
|
NP_003322.3:p.Ala1081=
|
|
XM_011528245.1:c.3243G>C
|
XP_011526547.1:p.Ala1081=
|
|
XM_011528246.1:c.2946G>C
|
XP_011526548.1:p.Ala982=
|
|
XM_011528247.1:c.2946G>C
|
XP_011526549.1:p.Ala982=
|
|
XM_011528248.1:c.3200+417G>C
|
XP_011526550.1:n.3200+417G>C
|
|
XM_011528249.1:c.1917G>C
|
XP_011526551.1:p.Ala639=
|
|
XM_011528251.1:c.1500G>C
|
XP_011526553.1:p.Ala500=
|
|
XM_011528246.3:c.2946G>C
|
XP_011526548.1:p.Ala982=
|
|
XM_011528249.2:c.1917G>C
|
XP_011526551.1:p.Ala639=
|
|
XR_001753750.1:n.3357+417G>C
|
|
|
XR_001753751.1:n.3795G>C
|
|
|
XR_002958353.1:n.4721G>C
|
|
|
NM_003331.5:c.3243G>C
MANE Select
|
NP_003322.3:p.Ala1081=
|
|
NM_001385197.1:c.3243G>C
|
NP_001372126.1:p.Ala1081=
|
|
NM_001385198.1:c.3168+449G>C
|
NP_001372127.1:n.3168+449G>C
|
|
NM_001385199.1:c.3057G>C
|
NP_001372128.1:p.Ala1019=
|
|
NM_001385200.1:c.3240G>C
|
NP_001372129.1:p.Ala1080=
|
|
NM_001385201.1:c.3045G>C
|
NP_001372130.1:p.Ala1015=
|
|
NM_001385202.1:c.3159G>C
|
NP_001372131.1:p.Ala1053=
|
|
NM_001385203.1:c.3324G>C
|
NP_001372132.1:p.Ala1108=
|
|
NM_001385204.1:c.3453G>C
|
NP_001372133.1:p.Ala1151=
|
|
NM_001385205.1:c.3153G>C
|
NP_001372134.1:p.Ala1051=
|
|
NM_001385206.1:c.3117G>C
|
NP_001372135.1:p.Ala1039=
|
|
NM_001385207.1:c.3225G>C
|
NP_001372136.1:p.Ala1075=
|
|