|
ENST00000524470.2:c.*1614G>C
|
ENSP00000514307.1:n.*1614G>C
|
|
|
ENST00000525976.6:c.3265G>C
|
ENSP00000434831.2:p.Val1089Leu
|
|
|
ENST00000527481.3:c.*35G>C
|
ENSP00000466340.2:n.*35G>C
|
|
|
ENST00000529370.6:n.4641G>C
|
|
|
|
ENST00000529739.2:n.4074G>C
|
|
|
|
ENST00000530829.2:c.*2816G>C
|
ENSP00000436826.2:n.*2816G>C
|
|
|
ENST00000531836.6:c.3265G>C
|
ENSP00000436175.2:p.Val1089Leu
|
|
|
ENST00000533334.2:c.*1242+439G>C
|
ENSP00000432320.2:n.*1242+439G>C
|
|
|
ENST00000534228.2:n.5054+439G>C
|
|
|
|
ENST00000699354.1:n.1367G>C
|
|
|
|
ENST00000699355.1:c.*2765G>C
|
ENSP00000514328.1:n.*2765G>C
|
|
|
ENST00000699356.1:n.4074G>C
|
|
|
|
ENST00000699357.1:n.5119G>C
|
|
|
|
ENST00000699358.1:c.3200+439G>C
|
ENSP00000514329.1:n.3200+439G>C
|
|
|
ENST00000699359.1:c.439G>C
|
|
|
|
ENST00000699360.1:c.3223G>C
|
ENSP00000514331.1:p.Val1075Leu
|
|
|
ENST00000699361.1:n.299G>C
|
|
|
|
ENST00000699362.1:c.161G>C
|
ENSP00000514332.1:n.161G>C
|
|
|
ENST00000699363.1:c.161G>C
|
ENSP00000514333.1:n.161G>C
|
|
|
ENST00000699364.1:n.265G>C
|
|
|
|
ENST00000699365.1:c.334G>C
|
ENSP00000514334.1:p.Val112Leu
|
|
|
ENST00000699366.1:n.111+1327G>C
|
|
|
|
ENST00000699367.1:n.112-1325G>C
|
|
|
|
ENST00000699368.1:c.752G>C
|
ENSP00000514335.1:n.752G>C
|
|
|
ENST00000525621.6:c.3265G>C
MANE Select
|
ENSP00000431885.1:p.Val1089Leu
|
|
|
ENST00000264818.10:c.3265G>C
|
ENSP00000264818.6:p.Val1089Leu
|
|
|
ENST00000524462.5:c.2710G>C
|
ENSP00000433203.1:p.Val904Leu
|
|
|
ENST00000525621.5:c.3265G>C
|
ENSP00000431885.1:p.Val1089Leu
|
|
|
ENST00000525976.5:c.6G>C
|
|
|
|
ENST00000527481.2:c.442G>C
|
|
|
|
ENST00000529422.1:n.116+535G>C
|
|
|
|
ENST00000529739.1:c.334G>C
|
ENSP00000436155.1:p.Val112Leu
|
|
|
ENST00000530220.1:n.331+439G>C
|
|
|
|
ENST00000530560.5:c.338-1519G>C
|
ENSP00000465291.1:n.338-1519G>C
|
|
|
ENST00000592137.1:n.419G>C
|
|
|
|
NM_003331.4:c.3265G>C , LRG_121t1:c.3265G>C
|
NP_003322.3:p.Val1089Leu
|
|
|
XM_011528245.1:c.3265G>C
|
XP_011526547.1:p.Val1089Leu
|
|
|
XM_011528246.1:c.2968G>C
|
XP_011526548.1:p.Val990Leu
|
|
|
XM_011528247.1:c.2968G>C
|
XP_011526549.1:p.Val990Leu
|
|
|
XM_011528248.1:c.3200+439G>C
|
XP_011526550.1:n.3200+439G>C
|
|
|
XM_011528249.1:c.1939G>C
|
XP_011526551.1:p.Val647Leu
|
|
|
XM_011528251.1:c.1522G>C
|
XP_011526553.1:p.Val508Leu
|
|
|
XM_011528246.3:c.2968G>C
|
XP_011526548.1:p.Val990Leu
|
|
|
XM_011528249.2:c.1939G>C
|
XP_011526551.1:p.Val647Leu
|
|
|
XR_001753750.1:n.3357+439G>C
|
|
|
|
XR_001753751.1:n.3817G>C
|
|
|
|
XR_002958353.1:n.4743G>C
|
|
|
|
NM_003331.5:c.3265G>C
MANE Select
|
NP_003322.3:p.Val1089Leu
|
|
|
NM_001385197.1:c.3265G>C
|
NP_001372126.1:p.Val1089Leu
|
|
|
NM_001385198.1:c.3168+471G>C
|
NP_001372127.1:n.3168+471G>C
|
|
|
NM_001385199.1:c.3079G>C
|
NP_001372128.1:p.Val1027Leu
|
|
|
NM_001385200.1:c.3262G>C
|
NP_001372129.1:p.Val1088Leu
|
|
|
NM_001385201.1:c.3067G>C
|
NP_001372130.1:p.Val1023Leu
|
|
|
NM_001385202.1:c.3181G>C
|
NP_001372131.1:p.Val1061Leu
|
|
|
NM_001385203.1:c.3346G>C
|
NP_001372132.1:p.Val1116Leu
|
|
|
NM_001385204.1:c.3475G>C
|
NP_001372133.1:p.Val1159Leu
|
|
|
NM_001385205.1:c.3175G>C
|
NP_001372134.1:p.Val1059Leu
|
|
|
NM_001385206.1:c.3139G>C
|
NP_001372135.1:p.Val1047Leu
|
|
|
NM_001385207.1:c.3247G>C
|
NP_001372136.1:p.Val1083Leu
|
|
