ENST00000524470.2:c.*1599G>A
|
ENSP00000514307.1:n.*1599G>A
|
|
ENST00000525976.6:c.3250G>A
|
ENSP00000434831.2:p.Val1084Ile
|
|
ENST00000527481.3:c.*20G>A
|
ENSP00000466340.2:n.*20G>A
|
|
ENST00000529370.6:n.4626G>A
|
|
|
ENST00000529739.2:n.4059G>A
|
|
|
ENST00000530829.2:c.*2801G>A
|
ENSP00000436826.2:n.*2801G>A
|
|
ENST00000531836.6:c.3250G>A
|
ENSP00000436175.2:p.Val1084Ile
|
|
ENST00000533334.2:c.*1242+424G>A
|
ENSP00000432320.2:n.*1242+424G>A
|
|
ENST00000534228.2:n.5054+424G>A
|
|
|
ENST00000699354.1:n.1352G>A
|
|
|
ENST00000699355.1:c.*2750G>A
|
ENSP00000514328.1:n.*2750G>A
|
|
ENST00000699356.1:n.4059G>A
|
|
|
ENST00000699357.1:n.5104G>A
|
|
|
ENST00000699358.1:c.3200+424G>A
|
ENSP00000514329.1:n.3200+424G>A
|
|
ENST00000699359.1:c.424G>A
|
|
|
ENST00000699360.1:c.3208G>A
|
ENSP00000514331.1:p.Val1070Ile
|
|
ENST00000699361.1:n.284G>A
|
|
|
ENST00000699362.1:c.146G>A
|
ENSP00000514332.1:n.146G>A
|
|
ENST00000699363.1:c.146G>A
|
ENSP00000514333.1:n.146G>A
|
|
ENST00000699364.1:n.250G>A
|
|
|
ENST00000699365.1:c.319G>A
|
ENSP00000514334.1:p.Val107Ile
|
|
ENST00000699366.1:n.111+1312G>A
|
|
|
ENST00000699367.1:n.111+1312G>A
|
|
|
ENST00000699368.1:c.737G>A
|
ENSP00000514335.1:n.737G>A
|
|
ENST00000525621.6:c.3250G>A
MANE Select
|
ENSP00000431885.1:p.Val1084Ile
|
|
ENST00000264818.10:c.3250G>A
|
ENSP00000264818.6:p.Val1084Ile
|
|
ENST00000524462.5:c.2695G>A
|
ENSP00000433203.1:p.Val899Ile
|
|
ENST00000525621.5:c.3250G>A
|
ENSP00000431885.1:p.Val1084Ile
|
|
ENST00000527481.2:c.427G>A
|
|
|
ENST00000529422.1:n.116+520G>A
|
|
|
ENST00000529739.1:c.319G>A
|
ENSP00000436155.1:p.Val107Ile
|
|
ENST00000530220.1:n.331+424G>A
|
|
|
ENST00000530560.5:c.338-1534G>A
|
ENSP00000465291.1:n.338-1534G>A
|
|
ENST00000592137.1:n.404G>A
|
|
|
NM_003331.4:c.3250G>A , LRG_121t1:c.3250G>A
|
NP_003322.3:p.Val1084Ile
|
|
XM_011528245.1:c.3250G>A
|
XP_011526547.1:p.Val1084Ile
|
|
XM_011528246.1:c.2953G>A
|
XP_011526548.1:p.Val985Ile
|
|
XM_011528247.1:c.2953G>A
|
XP_011526549.1:p.Val985Ile
|
|
XM_011528248.1:c.3200+424G>A
|
XP_011526550.1:n.3200+424G>A
|
|
XM_011528249.1:c.1924G>A
|
XP_011526551.1:p.Val642Ile
|
|
XM_011528251.1:c.1507G>A
|
XP_011526553.1:p.Val503Ile
|
|
XM_011528246.3:c.2953G>A
|
XP_011526548.1:p.Val985Ile
|
|
XM_011528249.2:c.1924G>A
|
XP_011526551.1:p.Val642Ile
|
|
XR_001753750.1:n.3357+424G>A
|
|
|
XR_001753751.1:n.3802G>A
|
|
|
XR_002958353.1:n.4728G>A
|
|
|
NM_003331.5:c.3250G>A
MANE Select
|
NP_003322.3:p.Val1084Ile
|
|
NM_001385197.1:c.3250G>A
|
NP_001372126.1:p.Val1084Ile
|
|
NM_001385198.1:c.3168+456G>A
|
NP_001372127.1:n.3168+456G>A
|
|
NM_001385199.1:c.3064G>A
|
NP_001372128.1:p.Val1022Ile
|
|
NM_001385200.1:c.3247G>A
|
NP_001372129.1:p.Val1083Ile
|
|
NM_001385201.1:c.3052G>A
|
NP_001372130.1:p.Val1018Ile
|
|
NM_001385202.1:c.3166G>A
|
NP_001372131.1:p.Val1056Ile
|
|
NM_001385203.1:c.3331G>A
|
NP_001372132.1:p.Val1111Ile
|
|
NM_001385204.1:c.3460G>A
|
NP_001372133.1:p.Val1154Ile
|
|
NM_001385205.1:c.3160G>A
|
NP_001372134.1:p.Val1054Ile
|
|
NM_001385206.1:c.3124G>A
|
NP_001372135.1:p.Val1042Ile
|
|
NM_001385207.1:c.3232G>A
|
NP_001372136.1:p.Val1078Ile
|
|