|
ENST00000486121.7:c.*564G>A
(GLA)
|
ENSP00000501124.2:n.*564G>A
|
|
|
ENST00000674127.2:c.*621G>A
(GLA)
|
ENSP00000501044.2:n.*621G>A
|
|
|
ENST00000710365.1:c.1193G>A
(GLA)
|
ENSP00000518234.1:p.Gly398Asp
|
|
|
ENST00000218516.4:c.1118G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly373Asp
|
|
|
ENST00000466414.2:n.1254G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2540G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1732G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*426G>A
(GLA)
|
ENSP00000497055.1:n.*426G>A
|
|
|
ENST00000486121.6:c.1163G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1241G>A
(GLA)
|
ENSP00000498186.1:p.Gly414Asp
|
|
|
ENST00000674127.1:c.1218G>A
(GLA)
|
ENSP00000501044.1:n.1218G>A
|
|
|
ENST00000674142.1:n.1421+1G>A
(GLA)
|
|
|
|
ENST00000675592.1:c.920G>A
(GLA)
|
ENSP00000502239.1:p.Gly307Asp
|
|
|
ENST00000675799.1:c.*643G>A
(GLA)
|
ENSP00000502661.1:n.*643G>A
|
|
|
ENST00000675968.1:n.3989G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1082G>A
(GLA)
|
ENSP00000501730.1:p.Gly361Asp
|
|
|
ENST00000676372.1:c.1184G>A
(GLA)
|
ENSP00000502805.1:n.1184G>A
|
|
|
ENST00000218516.3:c.1118G>A
(GLA)
|
ENSP00000218516.3:p.Gly373Asp
|
|
|
ENST00000409170.3:c.300+2524C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2524C>T
|
|
|
ENST00000409338.5:c.177+6159C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6159C>T
|
|
|
ENST00000466414.1:n.444G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*506G>A
(GLA)
|
ENSP00000476935.1:n.*506G>A
|
|
|
NM_000169.2:c.1118G>A , LRG_672t1:c.1118G>A
(GLA)
|
NP_000160.1:p.Gly373Asp
|
|
|
NM_001199973.1:c.408+2524C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2524C>T
|
|
|
NM_001199974.1:c.285+6159C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6159C>T
|
|
|
XR_938397.1:n.1203G>A
(GLA)
|
|
|
|
XR_938397.2:n.1224G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2524C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2524C>T
|
|
|
NM_001199974.2:c.177+6159C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6159C>T
|
|
|
NM_000169.3:c.1118G>A
(GLA)
MANE Select
|
NP_000160.1:p.Gly373Asp
|
|
|
NR_164783.1:n.1197G>A
(GLA)
|
|
|
