|
ENST00000524470.2:c.*1641T>C
|
ENSP00000514307.1:n.*1641T>C
|
|
|
ENST00000525976.6:c.3292T>C
|
ENSP00000434831.2:p.Cys1098Arg
|
|
|
ENST00000527481.3:c.*62T>C
|
ENSP00000466340.2:n.*62T>C
|
|
|
ENST00000529370.6:n.4668T>C
|
|
|
|
ENST00000529739.2:n.4101T>C
|
|
|
|
ENST00000530829.2:c.*2843T>C
|
ENSP00000436826.2:n.*2843T>C
|
|
|
ENST00000531836.6:c.3292T>C
|
ENSP00000436175.2:p.Cys1098Arg
|
|
|
ENST00000533334.2:c.*1242+466T>C
|
ENSP00000432320.2:n.*1242+466T>C
|
|
|
ENST00000534228.2:n.5054+466T>C
|
|
|
|
ENST00000699354.1:n.1394T>C
|
|
|
|
ENST00000699355.1:c.*2792T>C
|
ENSP00000514328.1:n.*2792T>C
|
|
|
ENST00000699356.1:n.4101T>C
|
|
|
|
ENST00000699357.1:n.5146T>C
|
|
|
|
ENST00000699358.1:c.3200+466T>C
|
ENSP00000514329.1:n.3200+466T>C
|
|
|
ENST00000699359.1:c.466T>C
|
|
|
|
ENST00000699360.1:c.3250T>C
|
ENSP00000514331.1:p.Cys1084Arg
|
|
|
ENST00000699361.1:n.326T>C
|
|
|
|
ENST00000699362.1:c.188T>C
|
ENSP00000514332.1:n.188T>C
|
|
|
ENST00000699363.1:c.188T>C
|
ENSP00000514333.1:n.188T>C
|
|
|
ENST00000699364.1:n.292T>C
|
|
|
|
ENST00000699365.1:c.361T>C
|
ENSP00000514334.1:p.Cys121Arg
|
|
|
ENST00000699366.1:n.111+1354T>C
|
|
|
|
ENST00000699367.1:n.112-1298T>C
|
|
|
|
ENST00000699368.1:c.779T>C
|
ENSP00000514335.1:n.779T>C
|
|
|
ENST00000525621.6:c.3292T>C
MANE Select
|
ENSP00000431885.1:p.Cys1098Arg
|
|
|
ENST00000264818.10:c.3292T>C
|
ENSP00000264818.6:p.Cys1098Arg
|
|
|
ENST00000524462.5:c.2737T>C
|
ENSP00000433203.1:p.Cys913Arg
|
|
|
ENST00000525621.5:c.3292T>C
|
ENSP00000431885.1:p.Cys1098Arg
|
|
|
ENST00000525976.5:c.33T>C
|
|
|
|
ENST00000527481.2:c.469T>C
|
|
|
|
ENST00000529422.1:n.116+562T>C
|
|
|
|
ENST00000529739.1:c.361T>C
|
ENSP00000436155.1:p.Cys121Arg
|
|
|
ENST00000530220.1:n.331+466T>C
|
|
|
|
ENST00000530560.5:c.338-1492T>C
|
ENSP00000465291.1:n.338-1492T>C
|
|
|
ENST00000592137.1:n.446T>C
|
|
|
|
NM_003331.4:c.3292T>C , LRG_121t1:c.3292T>C
|
NP_003322.3:p.Cys1098Arg
|
|
|
XM_011528245.1:c.3292T>C
|
XP_011526547.1:p.Cys1098Arg
|
|
|
XM_011528246.1:c.2995T>C
|
XP_011526548.1:p.Cys999Arg
|
|
|
XM_011528247.1:c.2995T>C
|
XP_011526549.1:p.Cys999Arg
|
|
|
XM_011528248.1:c.3200+466T>C
|
XP_011526550.1:n.3200+466T>C
|
|
|
XM_011528249.1:c.1966T>C
|
XP_011526551.1:p.Cys656Arg
|
|
|
XM_011528251.1:c.1549T>C
|
XP_011526553.1:p.Cys517Arg
|
|
|
XM_011528246.3:c.2995T>C
|
XP_011526548.1:p.Cys999Arg
|
|
|
XM_011528249.2:c.1966T>C
|
XP_011526551.1:p.Cys656Arg
|
|
|
XR_001753750.1:n.3357+466T>C
|
|
|
|
XR_001753751.1:n.3844T>C
|
|
|
|
XR_002958353.1:n.4770T>C
|
|
|
|
NM_003331.5:c.3292T>C
MANE Select
|
NP_003322.3:p.Cys1098Arg
|
|
|
NM_001385197.1:c.3292T>C
|
NP_001372126.1:p.Cys1098Arg
|
|
|
NM_001385198.1:c.3168+498T>C
|
NP_001372127.1:n.3168+498T>C
|
|
|
NM_001385199.1:c.3106T>C
|
NP_001372128.1:p.Cys1036Arg
|
|
|
NM_001385200.1:c.3289T>C
|
NP_001372129.1:p.Cys1097Arg
|
|
|
NM_001385201.1:c.3094T>C
|
NP_001372130.1:p.Cys1032Arg
|
|
|
NM_001385202.1:c.3208T>C
|
NP_001372131.1:p.Cys1070Arg
|
|
|
NM_001385203.1:c.3373T>C
|
NP_001372132.1:p.Cys1125Arg
|
|
|
NM_001385204.1:c.3502T>C
|
NP_001372133.1:p.Cys1168Arg
|
|
|
NM_001385205.1:c.3202T>C
|
NP_001372134.1:p.Cys1068Arg
|
|
|
NM_001385206.1:c.3166T>C
|
NP_001372135.1:p.Cys1056Arg
|
|
|
NM_001385207.1:c.3274T>C
|
NP_001372136.1:p.Cys1092Arg
|
|
