|
ENST00000486121.7:c.*459A>T
(GLA)
|
ENSP00000501124.2:n.*459A>T
|
|
|
ENST00000674127.2:c.*516A>T
(GLA)
|
ENSP00000501044.2:n.*516A>T
|
|
|
ENST00000710365.1:c.1088A>T
(GLA)
|
ENSP00000518234.1:p.Glu363Val
|
|
|
ENST00000218516.4:c.1013A>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Glu338Val
|
|
|
ENST00000466414.2:n.1149A>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2435A>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1627A>T
(GLA)
|
|
|
|
ENST00000480513.6:c.*321A>T
(GLA)
|
ENSP00000497055.1:n.*321A>T
|
|
|
ENST00000486121.6:c.1058A>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1136A>T
(GLA)
|
ENSP00000498186.1:p.Glu379Val
|
|
|
ENST00000674127.1:c.1113A>T
(GLA)
|
ENSP00000501044.1:n.1113A>T
|
|
|
ENST00000674142.1:n.1317A>T
(GLA)
|
|
|
|
ENST00000675592.1:c.815A>T
(GLA)
|
ENSP00000502239.1:p.Glu272Val
|
|
|
ENST00000675799.1:c.*538A>T
(GLA)
|
ENSP00000502661.1:n.*538A>T
|
|
|
ENST00000675968.1:n.3884A>T
(GLA)
|
|
|
|
ENST00000676156.1:c.977A>T
(GLA)
|
ENSP00000501730.1:p.Glu326Val
|
|
|
ENST00000676372.1:c.1079A>T
(GLA)
|
ENSP00000502805.1:n.1079A>T
|
|
|
ENST00000218516.3:c.1013A>T
(GLA)
|
ENSP00000218516.3:p.Glu338Val
|
|
|
ENST00000409170.3:c.300+2629T>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2629T>A
|
|
|
ENST00000409338.5:c.177+6264T>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6264T>A
|
|
|
ENST00000466414.1:n.339A>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*401A>T
(GLA)
|
ENSP00000476935.1:n.*401A>T
|
|
|
NM_000169.2:c.1013A>T , LRG_672t1:c.1013A>T
(GLA)
|
NP_000160.1:p.Glu338Val
|
|
|
NM_001199973.1:c.408+2629T>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2629T>A
|
|
|
NM_001199974.1:c.285+6264T>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6264T>A
|
|
|
XR_938397.1:n.1098A>T
(GLA)
|
|
|
|
XR_938397.2:n.1119A>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2629T>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2629T>A
|
|
|
NM_001199974.2:c.177+6264T>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6264T>A
|
|
|
NM_000169.3:c.1013A>T
(GLA)
MANE Select
|
NP_000160.1:p.Glu338Val
|
|
|
NR_164783.1:n.1092A>T
(GLA)
|
|
|
