|
ENST00000486121.7:c.*527G>A
(GLA)
|
ENSP00000501124.2:n.*527G>A
|
|
|
ENST00000674127.2:c.*584G>A
(GLA)
|
ENSP00000501044.2:n.*584G>A
|
|
|
ENST00000710365.1:c.1156G>A
(GLA)
|
ENSP00000518234.1:p.Gly386Arg
|
|
|
ENST00000218516.4:c.1081G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly361Arg
|
|
|
ENST00000466414.2:n.1217G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2503G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1695G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*389G>A
(GLA)
|
ENSP00000497055.1:n.*389G>A
|
|
|
ENST00000486121.6:c.1126G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1204G>A
(GLA)
|
ENSP00000498186.1:p.Gly402Arg
|
|
|
ENST00000674127.1:c.1181G>A
(GLA)
|
ENSP00000501044.1:n.1181G>A
|
|
|
ENST00000674142.1:n.1385G>A
(GLA)
|
|
|
|
ENST00000675592.1:c.883G>A
(GLA)
|
ENSP00000502239.1:p.Gly295Arg
|
|
|
ENST00000675799.1:c.*606G>A
(GLA)
|
ENSP00000502661.1:n.*606G>A
|
|
|
ENST00000675968.1:n.3952G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1045G>A
(GLA)
|
ENSP00000501730.1:p.Gly349Arg
|
|
|
ENST00000676372.1:c.1147G>A
(GLA)
|
ENSP00000502805.1:n.1147G>A
|
|
|
ENST00000218516.3:c.1081G>A
(GLA)
|
ENSP00000218516.3:p.Gly361Arg
|
|
|
ENST00000409170.3:c.300+2561C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2561C>T
|
|
|
ENST00000409338.5:c.177+6196C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6196C>T
|
|
|
ENST00000466414.1:n.407G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*469G>A
(GLA)
|
ENSP00000476935.1:n.*469G>A
|
|
|
NM_000169.2:c.1081G>A , LRG_672t1:c.1081G>A
(GLA)
|
NP_000160.1:p.Gly361Arg
|
|
|
NM_001199973.1:c.408+2561C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2561C>T
|
|
|
NM_001199974.1:c.285+6196C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6196C>T
|
|
|
XR_938397.1:n.1166G>A
(GLA)
|
|
|
|
XR_938397.2:n.1187G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2561C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2561C>T
|
|
|
NM_001199974.2:c.177+6196C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6196C>T
|
|
|
NM_000169.3:c.1081G>A
(GLA)
MANE Select
|
NP_000160.1:p.Gly361Arg
|
|
|
NR_164783.1:n.1160G>A
(GLA)
|
|
|
