ENST00000486121.7:c.*379T>A
(GLA)
|
ENSP00000501124.2:n.*379T>A
|
|
ENST00000674127.2:c.*436T>A
(GLA)
|
ENSP00000501044.2:n.*436T>A
|
|
ENST00000710365.1:c.1008T>A
(GLA)
|
ENSP00000518234.1:p.Leu336=
|
|
ENST00000218516.4:c.933T>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu311=
|
|
ENST00000466414.2:n.1069T>A
(GLA)
|
|
|
ENST00000468823.2:n.2085T>A
(GLA)
|
|
|
ENST00000479445.2:n.1547T>A
(GLA)
|
|
|
ENST00000480513.6:c.*241T>A
(GLA)
|
ENSP00000497055.1:n.*241T>A
|
|
ENST00000486121.6:c.978T>A
(GLA)
|
|
|
ENST00000649178.1:c.1056T>A
(GLA)
|
ENSP00000498186.1:p.Leu352=
|
|
ENST00000674127.1:c.1033T>A
(GLA)
|
ENSP00000501044.1:n.1033T>A
|
|
ENST00000674142.1:n.1237T>A
(GLA)
|
|
|
ENST00000674634.2:c.933T>A
(GLA)
|
ENSP00000502629.2:p.Leu311=
|
|
ENST00000675592.1:c.802-337T>A
(GLA)
|
ENSP00000502239.1:n.802-337T>A
|
|
ENST00000675799.1:c.*458T>A
(GLA)
|
ENSP00000502661.1:n.*458T>A
|
|
ENST00000675968.1:n.3804T>A
(GLA)
|
|
|
ENST00000676156.1:c.897T>A
(GLA)
|
ENSP00000501730.1:p.Leu299=
|
|
ENST00000676372.1:c.999T>A
(GLA)
|
ENSP00000502805.1:n.999T>A
|
|
ENST00000218516.3:c.933T>A
(GLA)
|
ENSP00000218516.3:p.Leu311=
|
|
ENST00000409170.3:c.300+2979A>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2979A>T
|
|
ENST00000409338.5:c.177+6614A>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6614A>T
|
|
ENST00000466414.1:n.259T>A
(GLA)
|
|
|
ENST00000493905.6:c.*321T>A
(GLA)
|
ENSP00000476935.1:n.*321T>A
|
|
NM_000169.2:c.933T>A , LRG_672t1:c.933T>A
(GLA)
|
NP_000160.1:p.Leu311=
|
|
NM_001199973.1:c.408+2979A>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2979A>T
|
|
NM_001199974.1:c.285+6614A>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6614A>T
|
|
XR_938397.1:n.1018T>A
(GLA)
|
|
|
XR_938397.2:n.1039T>A
(GLA)
|
|
|
NM_001199973.2:c.300+2979A>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2979A>T
|
|
NM_001199974.2:c.177+6614A>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6614A>T
|
|
NM_000169.3:c.933T>A
(GLA)
MANE Select
|
NP_000160.1:p.Leu311=
|
|
NR_164783.1:n.1012T>A
(GLA)
|
|
|