ENST00000524470.2:c.*1642G>T
|
ENSP00000514307.1:n.*1642G>T
|
|
ENST00000525976.6:c.3293G>T
|
ENSP00000434831.2:p.Cys1098Phe
|
|
ENST00000527481.3:c.*63G>T
|
ENSP00000466340.2:n.*63G>T
|
|
ENST00000529370.6:n.4669G>T
|
|
|
ENST00000529739.2:n.4102G>T
|
|
|
ENST00000530829.2:c.*2844G>T
|
ENSP00000436826.2:n.*2844G>T
|
|
ENST00000531836.6:c.3293G>T
|
ENSP00000436175.2:p.Cys1098Phe
|
|
ENST00000533334.2:c.*1242+467G>T
|
ENSP00000432320.2:n.*1242+467G>T
|
|
ENST00000534228.2:n.5054+467G>T
|
|
|
ENST00000699354.1:n.1395G>T
|
|
|
ENST00000699355.1:c.*2793G>T
|
ENSP00000514328.1:n.*2793G>T
|
|
ENST00000699356.1:n.4102G>T
|
|
|
ENST00000699357.1:n.5147G>T
|
|
|
ENST00000699358.1:c.3200+467G>T
|
ENSP00000514329.1:n.3200+467G>T
|
|
ENST00000699359.1:c.467G>T
|
|
|
ENST00000699360.1:c.3251G>T
|
ENSP00000514331.1:p.Cys1084Phe
|
|
ENST00000699361.1:n.327G>T
|
|
|
ENST00000699362.1:c.189G>T
|
ENSP00000514332.1:n.189G>T
|
|
ENST00000699363.1:c.189G>T
|
ENSP00000514333.1:n.189G>T
|
|
ENST00000699364.1:n.293G>T
|
|
|
ENST00000699365.1:c.362G>T
|
ENSP00000514334.1:p.Cys121Phe
|
|
ENST00000699366.1:n.111+1355G>T
|
|
|
ENST00000699367.1:n.112-1297G>T
|
|
|
ENST00000699368.1:c.780G>T
|
ENSP00000514335.1:n.780G>T
|
|
ENST00000525621.6:c.3293G>T
MANE Select
|
ENSP00000431885.1:p.Cys1098Phe
|
|
ENST00000264818.10:c.3293G>T
|
ENSP00000264818.6:p.Cys1098Phe
|
|
ENST00000524462.5:c.2738G>T
|
ENSP00000433203.1:p.Cys913Phe
|
|
ENST00000525621.5:c.3293G>T
|
ENSP00000431885.1:p.Cys1098Phe
|
|
ENST00000525976.5:c.34G>T
|
|
|
ENST00000527481.2:c.470G>T
|
|
|
ENST00000529422.1:n.116+563G>T
|
|
|
ENST00000529739.1:c.362G>T
|
ENSP00000436155.1:p.Cys121Phe
|
|
ENST00000530220.1:n.331+467G>T
|
|
|
ENST00000530560.5:c.338-1491G>T
|
ENSP00000465291.1:n.338-1491G>T
|
|
ENST00000592137.1:n.447G>T
|
|
|
NM_003331.4:c.3293G>T , LRG_121t1:c.3293G>T
|
NP_003322.3:p.Cys1098Phe
|
|
XM_011528245.1:c.3293G>T
|
XP_011526547.1:p.Cys1098Phe
|
|
XM_011528246.1:c.2996G>T
|
XP_011526548.1:p.Cys999Phe
|
|
XM_011528247.1:c.2996G>T
|
XP_011526549.1:p.Cys999Phe
|
|
XM_011528248.1:c.3200+467G>T
|
XP_011526550.1:n.3200+467G>T
|
|
XM_011528249.1:c.1967G>T
|
XP_011526551.1:p.Cys656Phe
|
|
XM_011528251.1:c.1550G>T
|
XP_011526553.1:p.Cys517Phe
|
|
XM_011528246.3:c.2996G>T
|
XP_011526548.1:p.Cys999Phe
|
|
XM_011528249.2:c.1967G>T
|
XP_011526551.1:p.Cys656Phe
|
|
XR_001753750.1:n.3357+467G>T
|
|
|
XR_001753751.1:n.3845G>T
|
|
|
XR_002958353.1:n.4771G>T
|
|
|
NM_003331.5:c.3293G>T
MANE Select
|
NP_003322.3:p.Cys1098Phe
|
|
NM_001385197.1:c.3293G>T
|
NP_001372126.1:p.Cys1098Phe
|
|
NM_001385198.1:c.3168+499G>T
|
NP_001372127.1:n.3168+499G>T
|
|
NM_001385199.1:c.3107G>T
|
NP_001372128.1:p.Cys1036Phe
|
|
NM_001385200.1:c.3290G>T
|
NP_001372129.1:p.Cys1097Phe
|
|
NM_001385201.1:c.3095G>T
|
NP_001372130.1:p.Cys1032Phe
|
|
NM_001385202.1:c.3209G>T
|
NP_001372131.1:p.Cys1070Phe
|
|
NM_001385203.1:c.3374G>T
|
NP_001372132.1:p.Cys1125Phe
|
|
NM_001385204.1:c.3503G>T
|
NP_001372133.1:p.Cys1168Phe
|
|
NM_001385205.1:c.3203G>T
|
NP_001372134.1:p.Cys1068Phe
|
|
NM_001385206.1:c.3167G>T
|
NP_001372135.1:p.Cys1056Phe
|
|
NM_001385207.1:c.3275G>T
|
NP_001372136.1:p.Cys1092Phe
|
|