|
ENST00000524470.2:c.*1582T>G
|
ENSP00000514307.1:n.*1582T>G
|
|
|
ENST00000525976.6:c.3233T>G
|
ENSP00000434831.2:p.Phe1078Cys
|
|
|
ENST00000527481.3:c.*3T>G
|
ENSP00000466340.2:n.*3T>G
|
|
|
ENST00000529370.6:n.4609T>G
|
|
|
|
ENST00000529739.2:n.4042T>G
|
|
|
|
ENST00000530829.2:c.*2784T>G
|
ENSP00000436826.2:n.*2784T>G
|
|
|
ENST00000531836.6:c.3233T>G
|
ENSP00000436175.2:p.Phe1078Cys
|
|
|
ENST00000533334.2:c.*1242+407T>G
|
ENSP00000432320.2:n.*1242+407T>G
|
|
|
ENST00000534228.2:n.5054+407T>G
|
|
|
|
ENST00000699354.1:n.1335T>G
|
|
|
|
ENST00000699355.1:c.*2733T>G
|
ENSP00000514328.1:n.*2733T>G
|
|
|
ENST00000699356.1:n.4042T>G
|
|
|
|
ENST00000699357.1:n.5087T>G
|
|
|
|
ENST00000699358.1:c.3200+407T>G
|
ENSP00000514329.1:n.3200+407T>G
|
|
|
ENST00000699359.1:c.407T>G
|
|
|
|
ENST00000699360.1:c.3191T>G
|
ENSP00000514331.1:p.Phe1064Cys
|
|
|
ENST00000699361.1:n.267T>G
|
|
|
|
ENST00000699362.1:c.129T>G
|
ENSP00000514332.1:n.129T>G
|
|
|
ENST00000699363.1:c.129T>G
|
ENSP00000514333.1:n.129T>G
|
|
|
ENST00000699364.1:n.233T>G
|
|
|
|
ENST00000699365.1:c.302T>G
|
ENSP00000514334.1:p.Phe101Cys
|
|
|
ENST00000699366.1:n.111+1295T>G
|
|
|
|
ENST00000699367.1:n.111+1295T>G
|
|
|
|
ENST00000699368.1:c.720T>G
|
ENSP00000514335.1:n.720T>G
|
|
|
ENST00000525621.6:c.3233T>G
MANE Select
|
ENSP00000431885.1:p.Phe1078Cys
|
|
|
ENST00000264818.10:c.3233T>G
|
ENSP00000264818.6:p.Phe1078Cys
|
|
|
ENST00000524462.5:c.2678T>G
|
ENSP00000433203.1:p.Phe893Cys
|
|
|
ENST00000525621.5:c.3233T>G
|
ENSP00000431885.1:p.Phe1078Cys
|
|
|
ENST00000527481.2:c.410T>G
|
|
|
|
ENST00000529422.1:n.116+503T>G
|
|
|
|
ENST00000529739.1:c.302T>G
|
ENSP00000436155.1:p.Phe101Cys
|
|
|
ENST00000530220.1:n.331+407T>G
|
|
|
|
ENST00000530560.5:c.337+1523T>G
|
ENSP00000465291.1:n.337+1523T>G
|
|
|
ENST00000592137.1:n.387T>G
|
|
|
|
NM_003331.4:c.3233T>G , LRG_121t1:c.3233T>G
|
NP_003322.3:p.Phe1078Cys
|
|
|
XM_011528245.1:c.3233T>G
|
XP_011526547.1:p.Phe1078Cys
|
|
|
XM_011528246.1:c.2936T>G
|
XP_011526548.1:p.Phe979Cys
|
|
|
XM_011528247.1:c.2936T>G
|
XP_011526549.1:p.Phe979Cys
|
|
|
XM_011528248.1:c.3200+407T>G
|
XP_011526550.1:n.3200+407T>G
|
|
|
XM_011528249.1:c.1907T>G
|
XP_011526551.1:p.Phe636Cys
|
|
|
XM_011528251.1:c.1490T>G
|
XP_011526553.1:p.Phe497Cys
|
|
|
XM_011528246.3:c.2936T>G
|
XP_011526548.1:p.Phe979Cys
|
|
|
XM_011528249.2:c.1907T>G
|
XP_011526551.1:p.Phe636Cys
|
|
|
XR_001753750.1:n.3357+407T>G
|
|
|
|
XR_001753751.1:n.3785T>G
|
|
|
|
XR_002958353.1:n.4711T>G
|
|
|
|
NM_003331.5:c.3233T>G
MANE Select
|
NP_003322.3:p.Phe1078Cys
|
|
|
NM_001385197.1:c.3233T>G
|
NP_001372126.1:p.Phe1078Cys
|
|
|
NM_001385198.1:c.3168+439T>G
|
NP_001372127.1:n.3168+439T>G
|
|
|
NM_001385199.1:c.3047T>G
|
NP_001372128.1:p.Phe1016Cys
|
|
|
NM_001385200.1:c.3230T>G
|
NP_001372129.1:p.Phe1077Cys
|
|
|
NM_001385201.1:c.3035T>G
|
NP_001372130.1:p.Phe1012Cys
|
|
|
NM_001385202.1:c.3149T>G
|
NP_001372131.1:p.Phe1050Cys
|
|
|
NM_001385203.1:c.3314T>G
|
NP_001372132.1:p.Phe1105Cys
|
|
|
NM_001385204.1:c.3443T>G
|
NP_001372133.1:p.Phe1148Cys
|
|
|
NM_001385205.1:c.3143T>G
|
NP_001372134.1:p.Phe1048Cys
|
|
|
NM_001385206.1:c.3107T>G
|
NP_001372135.1:p.Phe1036Cys
|
|
|
NM_001385207.1:c.3215T>G
|
NP_001372136.1:p.Phe1072Cys
|
|
