|
ENST00000486121.7:c.*181G>A
(GLA)
|
ENSP00000501124.2:n.*181G>A
|
|
|
ENST00000674127.2:c.*238G>A
(GLA)
|
ENSP00000501044.2:n.*238G>A
|
|
|
ENST00000710365.1:c.810G>A
(GLA)
|
ENSP00000518234.1:p.Trp270Ter
|
|
|
ENST00000218516.4:c.735G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Trp245Ter
|
|
|
ENST00000466414.2:n.654G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.1670G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1132G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*43G>A
(GLA)
|
ENSP00000497055.1:n.*43G>A
|
|
|
ENST00000486121.6:c.780G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.858G>A
(GLA)
|
ENSP00000498186.1:p.Trp286Ter
|
|
|
ENST00000674127.1:c.835G>A
(GLA)
|
ENSP00000501044.1:n.835G>A
|
|
|
ENST00000674142.1:n.822G>A
(GLA)
|
|
|
|
ENST00000674634.2:c.735G>A
(GLA)
|
ENSP00000502629.2:p.Trp245Ter
|
|
|
ENST00000675592.1:c.735G>A
(GLA)
|
ENSP00000502239.1:p.Trp245Ter
|
|
|
ENST00000675799.1:c.*43G>A
(GLA)
|
ENSP00000502661.1:n.*43G>A
|
|
|
ENST00000675968.1:n.3389G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.699G>A
(GLA)
|
ENSP00000501730.1:p.Trp233Ter
|
|
|
ENST00000676372.1:c.735G>A
(GLA)
|
ENSP00000502805.1:p.Trp245Ter
|
|
|
ENST00000218516.3:c.735G>A
(GLA)
|
ENSP00000218516.3:p.Trp245Ter
|
|
|
ENST00000409170.3:c.300+3394C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3394C>T
|
|
|
ENST00000409338.5:c.177+7029C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7029C>T
|
|
|
ENST00000468823.1:n.284G>A
(GLA)
|
|
|
|
ENST00000480513.5:n.573G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*123G>A
(GLA)
|
ENSP00000476935.1:n.*123G>A
|
|
|
NM_000169.2:c.735G>A , LRG_672t1:c.735G>A
(GLA)
|
NP_000160.1:p.Trp245Ter
|
|
|
NM_001199973.1:c.408+3394C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3394C>T
|
|
|
NM_001199974.1:c.285+7029C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7029C>T
|
|
|
XR_938397.1:n.820G>A
(GLA)
|
|
|
|
XR_938397.2:n.841G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+3394C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3394C>T
|
|
|
NM_001199974.2:c.177+7029C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7029C>T
|
|
|
NM_000169.3:c.735G>A
(GLA)
MANE Select
|
NP_000160.1:p.Trp245Ter
|
|
|
NR_164783.1:n.814G>A
(GLA)
|
|
|
