|
ENST00000524470.2:c.*1555C>G
|
ENSP00000514307.1:n.*1555C>G
|
|
|
ENST00000525976.6:c.3206C>G
|
ENSP00000434831.2:p.Ala1069Gly
|
|
|
ENST00000527481.3:c.3087C>G
|
ENSP00000466340.2:p.Cys1029Trp
|
|
|
ENST00000529370.6:n.4582C>G
|
|
|
|
ENST00000529739.2:n.4015C>G
|
|
|
|
ENST00000530829.2:c.*2757C>G
|
ENSP00000436826.2:n.*2757C>G
|
|
|
ENST00000531836.6:c.3206C>G
|
ENSP00000436175.2:p.Ala1069Gly
|
|
|
ENST00000533334.2:c.*1242+380C>G
|
ENSP00000432320.2:n.*1242+380C>G
|
|
|
ENST00000534228.2:n.5054+380C>G
|
|
|
|
ENST00000699354.1:n.1308C>G
|
|
|
|
ENST00000699355.1:c.*2706C>G
|
ENSP00000514328.1:n.*2706C>G
|
|
|
ENST00000699356.1:n.4015C>G
|
|
|
|
ENST00000699357.1:n.5060C>G
|
|
|
|
ENST00000699358.1:c.3200+380C>G
|
ENSP00000514329.1:n.3200+380C>G
|
|
|
ENST00000699359.1:c.380C>G
|
|
|
|
ENST00000699360.1:c.3164C>G
|
ENSP00000514331.1:p.Ala1055Gly
|
|
|
ENST00000699361.1:n.240C>G
|
|
|
|
ENST00000699362.1:c.102C>G
|
ENSP00000514332.1:p.Cys34Trp
|
|
|
ENST00000699363.1:c.102C>G
|
ENSP00000514333.1:p.Cys34Trp
|
|
|
ENST00000699364.1:n.206C>G
|
|
|
|
ENST00000699365.1:c.275C>G
|
ENSP00000514334.1:p.Ala92Gly
|
|
|
ENST00000699366.1:n.111+1268C>G
|
|
|
|
ENST00000699367.1:n.111+1268C>G
|
|
|
|
ENST00000699368.1:c.693C>G
|
ENSP00000514335.1:n.693C>G
|
|
|
ENST00000525621.6:c.3206C>G
MANE Select
|
ENSP00000431885.1:p.Ala1069Gly
|
|
|
ENST00000264818.10:c.3206C>G
|
ENSP00000264818.6:p.Ala1069Gly
|
|
|
ENST00000524462.5:c.2651C>G
|
ENSP00000433203.1:p.Ala884Gly
|
|
|
ENST00000525621.5:c.3206C>G
|
ENSP00000431885.1:p.Ala1069Gly
|
|
|
ENST00000527481.2:c.383C>G
|
|
|
|
ENST00000529422.1:n.116+476C>G
|
|
|
|
ENST00000529739.1:c.275C>G
|
ENSP00000436155.1:p.Ala92Gly
|
|
|
ENST00000530220.1:n.331+380C>G
|
|
|
|
ENST00000530560.5:c.337+1496C>G
|
ENSP00000465291.1:n.337+1496C>G
|
|
|
ENST00000592137.1:n.360C>G
|
|
|
|
NM_003331.4:c.3206C>G , LRG_121t1:c.3206C>G
|
NP_003322.3:p.Ala1069Gly
|
|
|
XM_011528245.1:c.3206C>G
|
XP_011526547.1:p.Ala1069Gly
|
|
|
XM_011528246.1:c.2909C>G
|
XP_011526548.1:p.Ala970Gly
|
|
|
XM_011528247.1:c.2909C>G
|
XP_011526549.1:p.Ala970Gly
|
|
|
XM_011528248.1:c.3200+380C>G
|
XP_011526550.1:n.3200+380C>G
|
|
|
XM_011528249.1:c.1880C>G
|
XP_011526551.1:p.Ala627Gly
|
|
|
XM_011528251.1:c.1463C>G
|
XP_011526553.1:p.Ala488Gly
|
|
|
XM_011528246.3:c.2909C>G
|
XP_011526548.1:p.Ala970Gly
|
|
|
XM_011528249.2:c.1880C>G
|
XP_011526551.1:p.Ala627Gly
|
|
|
XR_001753750.1:n.3357+380C>G
|
|
|
|
XR_001753751.1:n.3758C>G
|
|
|
|
XR_002958353.1:n.4684C>G
|
|
|
|
NM_003331.5:c.3206C>G
MANE Select
|
NP_003322.3:p.Ala1069Gly
|
|
|
NM_001385197.1:c.3206C>G
|
NP_001372126.1:p.Ala1069Gly
|
|
|
NM_001385198.1:c.3168+412C>G
|
NP_001372127.1:n.3168+412C>G
|
|
|
NM_001385199.1:c.3020C>G
|
NP_001372128.1:p.Ala1007Gly
|
|
|
NM_001385200.1:c.3203C>G
|
NP_001372129.1:p.Ala1068Gly
|
|
|
NM_001385201.1:c.3008C>G
|
NP_001372130.1:p.Ala1003Gly
|
|
|
NM_001385202.1:c.3122C>G
|
NP_001372131.1:p.Ala1041Gly
|
|
|
NM_001385203.1:c.3287C>G
|
NP_001372132.1:p.Ala1096Gly
|
|
|
NM_001385204.1:c.3416C>G
|
NP_001372133.1:p.Ala1139Gly
|
|
|
NM_001385205.1:c.3116C>G
|
NP_001372134.1:p.Ala1039Gly
|
|
|
NM_001385206.1:c.3080C>G
|
NP_001372135.1:p.Ala1027Gly
|
|
|
NM_001385207.1:c.3188C>G
|
NP_001372136.1:p.Ala1063Gly
|
|
