|
ENST00000486121.7:c.*489C>A
(GLA)
|
ENSP00000501124.2:n.*489C>A
|
|
|
ENST00000674127.2:c.*546C>A
(GLA)
|
ENSP00000501044.2:n.*546C>A
|
|
|
ENST00000710365.1:c.1118C>A
(GLA)
|
ENSP00000518234.1:p.Ala373Asp
|
|
|
ENST00000218516.4:c.1043C>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala348Asp
|
|
|
ENST00000466414.2:n.1179C>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2465C>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1657C>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*351C>A
(GLA)
|
ENSP00000497055.1:n.*351C>A
|
|
|
ENST00000486121.6:c.1088C>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1166C>A
(GLA)
|
ENSP00000498186.1:p.Ala389Asp
|
|
|
ENST00000674127.1:c.1143C>A
(GLA)
|
ENSP00000501044.1:n.1143C>A
|
|
|
ENST00000674142.1:n.1347C>A
(GLA)
|
|
|
|
ENST00000675592.1:c.845C>A
(GLA)
|
ENSP00000502239.1:p.Ala282Asp
|
|
|
ENST00000675799.1:c.*568C>A
(GLA)
|
ENSP00000502661.1:n.*568C>A
|
|
|
ENST00000675968.1:n.3914C>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1007C>A
(GLA)
|
ENSP00000501730.1:p.Ala336Asp
|
|
|
ENST00000676372.1:c.1109C>A
(GLA)
|
ENSP00000502805.1:n.1109C>A
|
|
|
ENST00000218516.3:c.1043C>A
(GLA)
|
ENSP00000218516.3:p.Ala348Asp
|
|
|
ENST00000409170.3:c.300+2599G>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2599G>T
|
|
|
ENST00000409338.5:c.177+6234G>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6234G>T
|
|
|
ENST00000466414.1:n.369C>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*431C>A
(GLA)
|
ENSP00000476935.1:n.*431C>A
|
|
|
NM_000169.2:c.1043C>A , LRG_672t1:c.1043C>A
(GLA)
|
NP_000160.1:p.Ala348Asp
|
|
|
NM_001199973.1:c.408+2599G>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2599G>T
|
|
|
NM_001199974.1:c.285+6234G>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6234G>T
|
|
|
XR_938397.1:n.1128C>A
(GLA)
|
|
|
|
XR_938397.2:n.1149C>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2599G>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2599G>T
|
|
|
NM_001199974.2:c.177+6234G>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6234G>T
|
|
|
NM_000169.3:c.1043C>A
(GLA)
MANE Select
|
NP_000160.1:p.Ala348Asp
|
|
|
NR_164783.1:n.1122C>A
(GLA)
|
|
|
