|
ENST00000486121.7:c.*580T>A
(GLA)
|
ENSP00000501124.2:n.*580T>A
|
|
|
ENST00000674127.2:c.*637T>A
(GLA)
|
ENSP00000501044.2:n.*637T>A
|
|
|
ENST00000710365.1:c.1209T>A
(GLA)
|
ENSP00000518234.1:p.Cys403Ter
|
|
|
ENST00000218516.4:c.1134T>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Cys378Ter
|
|
|
ENST00000466414.2:n.1270T>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2556T>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1748T>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*442T>A
(GLA)
|
ENSP00000497055.1:n.*442T>A
|
|
|
ENST00000486121.6:c.1179T>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1257T>A
(GLA)
|
ENSP00000498186.1:p.Cys419Ter
|
|
|
ENST00000674127.1:c.1234T>A
(GLA)
|
ENSP00000501044.1:n.1234T>A
|
|
|
ENST00000674142.1:n.1421+17T>A
(GLA)
|
|
|
|
ENST00000675592.1:c.936T>A
(GLA)
|
ENSP00000502239.1:p.Cys312Ter
|
|
|
ENST00000675799.1:c.*659T>A
(GLA)
|
ENSP00000502661.1:n.*659T>A
|
|
|
ENST00000675968.1:n.4005T>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1098T>A
(GLA)
|
ENSP00000501730.1:p.Cys366Ter
|
|
|
ENST00000676372.1:c.1200T>A
(GLA)
|
ENSP00000502805.1:n.1200T>A
|
|
|
ENST00000218516.3:c.1134T>A
(GLA)
|
ENSP00000218516.3:p.Cys378Ter
|
|
|
ENST00000409170.3:c.300+2508A>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2508A>T
|
|
|
ENST00000409338.5:c.177+6143A>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6143A>T
|
|
|
ENST00000466414.1:n.460T>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*522T>A
(GLA)
|
ENSP00000476935.1:n.*522T>A
|
|
|
NM_000169.2:c.1134T>A , LRG_672t1:c.1134T>A
(GLA)
|
NP_000160.1:p.Cys378Ter
|
|
|
NM_001199973.1:c.408+2508A>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2508A>T
|
|
|
NM_001199974.1:c.285+6143A>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6143A>T
|
|
|
XR_938397.1:n.1219T>A
(GLA)
|
|
|
|
XR_938397.2:n.1240T>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2508A>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2508A>T
|
|
|
NM_001199974.2:c.177+6143A>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6143A>T
|
|
|
NM_000169.3:c.1134T>A
(GLA)
MANE Select
|
NP_000160.1:p.Cys378Ter
|
|
|
NR_164783.1:n.1213T>A
(GLA)
|
|
|
