ENST00000486121.7:c.*115C>A
(GLA)
|
ENSP00000501124.2:n.*115C>A
|
|
ENST00000674127.2:c.*172C>A
(GLA)
|
ENSP00000501044.2:n.*172C>A
|
|
ENST00000710365.1:c.744C>A
(GLA)
|
ENSP00000518234.1:p.Cys248Ter
|
|
ENST00000218516.4:c.669C>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Cys223Ter
|
|
ENST00000466414.2:n.588C>A
(GLA)
|
|
|
ENST00000468823.2:n.1604C>A
(GLA)
|
|
|
ENST00000479445.2:n.1066C>A
(GLA)
|
|
|
ENST00000480513.6:c.577C>A
(GLA)
|
ENSP00000497055.1:p.Gln193Lys
|
|
ENST00000486121.6:c.714C>A
(GLA)
|
|
|
ENST00000649178.1:c.792C>A
(GLA)
|
ENSP00000498186.1:p.Cys264Ter
|
|
ENST00000674127.1:c.769C>A
(GLA)
|
ENSP00000501044.1:n.769C>A
|
|
ENST00000674142.1:n.756C>A
(GLA)
|
|
|
ENST00000674634.2:c.669C>A
(GLA)
|
ENSP00000502629.2:p.Cys223Ter
|
|
ENST00000675592.1:c.669C>A
(GLA)
|
ENSP00000502239.1:p.Cys223Ter
|
|
ENST00000675799.1:c.577C>A
(GLA)
|
ENSP00000502661.1:p.Gln193Lys
|
|
ENST00000675968.1:n.3323C>A
(GLA)
|
|
|
ENST00000676156.1:c.633C>A
(GLA)
|
ENSP00000501730.1:p.Cys211Ter
|
|
ENST00000676372.1:c.669C>A
(GLA)
|
ENSP00000502805.1:p.Cys223Ter
|
|
ENST00000218516.3:c.669C>A
(GLA)
|
ENSP00000218516.3:p.Cys223Ter
|
|
ENST00000409170.3:c.300+3460G>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3460G>T
|
|
ENST00000409338.5:c.177+7095G>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7095G>T
|
|
ENST00000468823.1:n.218C>A
(GLA)
|
|
|
ENST00000480513.5:n.507C>A
(GLA)
|
|
|
ENST00000486121.5:n.714C>A
(GLA)
|
|
|
ENST00000493905.6:c.*57C>A
(GLA)
|
ENSP00000476935.1:n.*57C>A
|
|
NM_000169.2:c.669C>A , LRG_672t1:c.669C>A
(GLA)
|
NP_000160.1:p.Cys223Ter
|
|
NM_001199973.1:c.408+3460G>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3460G>T
|
|
NM_001199974.1:c.285+7095G>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7095G>T
|
|
XR_938397.1:n.754C>A
(GLA)
|
|
|
XR_938397.2:n.775C>A
(GLA)
|
|
|
NM_001199973.2:c.300+3460G>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3460G>T
|
|
NM_001199974.2:c.177+7095G>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7095G>T
|
|
NM_000169.3:c.669C>A
(GLA)
MANE Select
|
NP_000160.1:p.Cys223Ter
|
|
NR_164783.1:n.748C>A
(GLA)
|
|
|