|
ENST00000524470.2:c.*1560G>C
|
ENSP00000514307.1:n.*1560G>C
|
|
|
ENST00000525976.6:c.3211G>C
|
ENSP00000434831.2:p.Glu1071Gln
|
|
|
ENST00000527481.3:c.3092G>C
|
ENSP00000466340.2:p.Arg1031Thr
|
|
|
ENST00000529370.6:n.4587G>C
|
|
|
|
ENST00000529739.2:n.4020G>C
|
|
|
|
ENST00000530829.2:c.*2762G>C
|
ENSP00000436826.2:n.*2762G>C
|
|
|
ENST00000531836.6:c.3211G>C
|
ENSP00000436175.2:p.Glu1071Gln
|
|
|
ENST00000533334.2:c.*1242+385G>C
|
ENSP00000432320.2:n.*1242+385G>C
|
|
|
ENST00000534228.2:n.5054+385G>C
|
|
|
|
ENST00000699354.1:n.1313G>C
|
|
|
|
ENST00000699355.1:c.*2711G>C
|
ENSP00000514328.1:n.*2711G>C
|
|
|
ENST00000699356.1:n.4020G>C
|
|
|
|
ENST00000699357.1:n.5065G>C
|
|
|
|
ENST00000699358.1:c.3200+385G>C
|
ENSP00000514329.1:n.3200+385G>C
|
|
|
ENST00000699359.1:c.385G>C
|
|
|
|
ENST00000699360.1:c.3169G>C
|
ENSP00000514331.1:p.Glu1057Gln
|
|
|
ENST00000699361.1:n.245G>C
|
|
|
|
ENST00000699362.1:c.107G>C
|
ENSP00000514332.1:p.Arg36Thr
|
|
|
ENST00000699363.1:c.107G>C
|
ENSP00000514333.1:p.Arg36Thr
|
|
|
ENST00000699364.1:n.211G>C
|
|
|
|
ENST00000699365.1:c.280G>C
|
ENSP00000514334.1:p.Glu94Gln
|
|
|
ENST00000699366.1:n.111+1273G>C
|
|
|
|
ENST00000699367.1:n.111+1273G>C
|
|
|
|
ENST00000699368.1:c.698G>C
|
ENSP00000514335.1:n.698G>C
|
|
|
ENST00000525621.6:c.3211G>C
MANE Select
|
ENSP00000431885.1:p.Glu1071Gln
|
|
|
ENST00000264818.10:c.3211G>C
|
ENSP00000264818.6:p.Glu1071Gln
|
|
|
ENST00000524462.5:c.2656G>C
|
ENSP00000433203.1:p.Glu886Gln
|
|
|
ENST00000525621.5:c.3211G>C
|
ENSP00000431885.1:p.Glu1071Gln
|
|
|
ENST00000527481.2:c.388G>C
|
|
|
|
ENST00000529422.1:n.116+481G>C
|
|
|
|
ENST00000529739.1:c.280G>C
|
ENSP00000436155.1:p.Glu94Gln
|
|
|
ENST00000530220.1:n.331+385G>C
|
|
|
|
ENST00000530560.5:c.337+1501G>C
|
ENSP00000465291.1:n.337+1501G>C
|
|
|
ENST00000592137.1:n.365G>C
|
|
|
|
NM_003331.4:c.3211G>C , LRG_121t1:c.3211G>C
|
NP_003322.3:p.Glu1071Gln
|
|
|
XM_011528245.1:c.3211G>C
|
XP_011526547.1:p.Glu1071Gln
|
|
|
XM_011528246.1:c.2914G>C
|
XP_011526548.1:p.Glu972Gln
|
|
|
XM_011528247.1:c.2914G>C
|
XP_011526549.1:p.Glu972Gln
|
|
|
XM_011528248.1:c.3200+385G>C
|
XP_011526550.1:n.3200+385G>C
|
|
|
XM_011528249.1:c.1885G>C
|
XP_011526551.1:p.Glu629Gln
|
|
|
XM_011528251.1:c.1468G>C
|
XP_011526553.1:p.Glu490Gln
|
|
|
XM_011528246.3:c.2914G>C
|
XP_011526548.1:p.Glu972Gln
|
|
|
XM_011528249.2:c.1885G>C
|
XP_011526551.1:p.Glu629Gln
|
|
|
XR_001753750.1:n.3357+385G>C
|
|
|
|
XR_001753751.1:n.3763G>C
|
|
|
|
XR_002958353.1:n.4689G>C
|
|
|
|
NM_003331.5:c.3211G>C
MANE Select
|
NP_003322.3:p.Glu1071Gln
|
|
|
NM_001385197.1:c.3211G>C
|
NP_001372126.1:p.Glu1071Gln
|
|
|
NM_001385198.1:c.3168+417G>C
|
NP_001372127.1:n.3168+417G>C
|
|
|
NM_001385199.1:c.3025G>C
|
NP_001372128.1:p.Glu1009Gln
|
|
|
NM_001385200.1:c.3208G>C
|
NP_001372129.1:p.Glu1070Gln
|
|
|
NM_001385201.1:c.3013G>C
|
NP_001372130.1:p.Glu1005Gln
|
|
|
NM_001385202.1:c.3127G>C
|
NP_001372131.1:p.Glu1043Gln
|
|
|
NM_001385203.1:c.3292G>C
|
NP_001372132.1:p.Glu1098Gln
|
|
|
NM_001385204.1:c.3421G>C
|
NP_001372133.1:p.Glu1141Gln
|
|
|
NM_001385205.1:c.3121G>C
|
NP_001372134.1:p.Glu1041Gln
|
|
|
NM_001385206.1:c.3085G>C
|
NP_001372135.1:p.Glu1029Gln
|
|
|
NM_001385207.1:c.3193G>C
|
NP_001372136.1:p.Glu1065Gln
|
|
