|
ENST00000486121.7:c.*563G>A
(GLA)
|
ENSP00000501124.2:n.*563G>A
|
|
|
ENST00000674127.2:c.*620G>A
(GLA)
|
ENSP00000501044.2:n.*620G>A
|
|
|
ENST00000710365.1:c.1192G>A
(GLA)
|
ENSP00000518234.1:p.Gly398Ser
|
|
|
ENST00000218516.4:c.1117G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly373Ser
|
|
|
ENST00000466414.2:n.1253G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2539G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1731G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*425G>A
(GLA)
|
ENSP00000497055.1:n.*425G>A
|
|
|
ENST00000486121.6:c.1162G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1240G>A
(GLA)
|
ENSP00000498186.1:p.Gly414Ser
|
|
|
ENST00000674127.1:c.1217G>A
(GLA)
|
ENSP00000501044.1:n.1217G>A
|
|
|
ENST00000674142.1:n.1421G>A
(GLA)
|
|
|
|
ENST00000675592.1:c.919G>A
(GLA)
|
ENSP00000502239.1:p.Gly307Ser
|
|
|
ENST00000675799.1:c.*642G>A
(GLA)
|
ENSP00000502661.1:n.*642G>A
|
|
|
ENST00000675968.1:n.3988G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1081G>A
(GLA)
|
ENSP00000501730.1:p.Gly361Ser
|
|
|
ENST00000676372.1:c.1183G>A
(GLA)
|
ENSP00000502805.1:n.1183G>A
|
|
|
ENST00000218516.3:c.1117G>A
(GLA)
|
ENSP00000218516.3:p.Gly373Ser
|
|
|
ENST00000409170.3:c.300+2525C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2525C>T
|
|
|
ENST00000409338.5:c.177+6160C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6160C>T
|
|
|
ENST00000466414.1:n.443G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*505G>A
(GLA)
|
ENSP00000476935.1:n.*505G>A
|
|
|
NM_000169.2:c.1117G>A , LRG_672t1:c.1117G>A
(GLA)
|
NP_000160.1:p.Gly373Ser
|
|
|
NM_001199973.1:c.408+2525C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2525C>T
|
|
|
NM_001199974.1:c.285+6160C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6160C>T
|
|
|
XR_938397.1:n.1202G>A
(GLA)
|
|
|
|
XR_938397.2:n.1223G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2525C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2525C>T
|
|
|
NM_001199974.2:c.177+6160C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6160C>T
|
|
|
NM_000169.3:c.1117G>A
(GLA)
MANE Select
|
NP_000160.1:p.Gly373Ser
|
|
|
NR_164783.1:n.1196G>A
(GLA)
|
|
|
