|
ENST00000486121.7:c.*281C>T
(GLA)
|
ENSP00000501124.2:n.*281C>T
|
|
|
ENST00000674127.2:c.*338C>T
(GLA)
|
ENSP00000501044.2:n.*338C>T
|
|
|
ENST00000710365.1:c.910C>T
(GLA)
|
ENSP00000518234.1:p.Gln304Ter
|
|
|
ENST00000218516.4:c.835C>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gln279Ter
|
|
|
ENST00000466414.2:n.971C>T
(GLA)
|
|
|
|
ENST00000468823.2:n.1987C>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1449C>T
(GLA)
|
|
|
|
ENST00000480513.6:c.*143C>T
(GLA)
|
ENSP00000497055.1:n.*143C>T
|
|
|
ENST00000486121.6:c.880C>T
(GLA)
|
|
|
|
ENST00000649178.1:c.958C>T
(GLA)
|
ENSP00000498186.1:p.Gln320Ter
|
|
|
ENST00000674127.1:c.935C>T
(GLA)
|
ENSP00000501044.1:n.935C>T
|
|
|
ENST00000674142.1:n.1139C>T
(GLA)
|
|
|
|
ENST00000674634.2:c.835C>T
(GLA)
|
ENSP00000502629.2:p.Gln279Ter
|
|
|
ENST00000675592.1:c.801+251C>T
(GLA)
|
ENSP00000502239.1:n.801+251C>T
|
|
|
ENST00000675799.1:c.*360C>T
(GLA)
|
ENSP00000502661.1:n.*360C>T
|
|
|
ENST00000675968.1:n.3706C>T
(GLA)
|
|
|
|
ENST00000676156.1:c.799C>T
(GLA)
|
ENSP00000501730.1:p.Gln267Ter
|
|
|
ENST00000676372.1:c.901C>T
(GLA)
|
ENSP00000502805.1:n.901C>T
|
|
|
ENST00000218516.3:c.835C>T
(GLA)
|
ENSP00000218516.3:p.Gln279Ter
|
|
|
ENST00000409170.3:c.300+3077G>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3077G>A
|
|
|
ENST00000409338.5:c.177+6712G>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6712G>A
|
|
|
ENST00000466414.1:n.161C>T
(GLA)
|
|
|
|
ENST00000468823.1:n.601C>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*223C>T
(GLA)
|
ENSP00000476935.1:n.*223C>T
|
|
|
NM_000169.2:c.835C>T , LRG_672t1:c.835C>T
(GLA)
|
NP_000160.1:p.Gln279Ter
|
|
|
NM_001199973.1:c.408+3077G>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3077G>A
|
|
|
NM_001199974.1:c.285+6712G>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6712G>A
|
|
|
XR_938397.1:n.920C>T
(GLA)
|
|
|
|
XR_938397.2:n.941C>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+3077G>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3077G>A
|
|
|
NM_001199974.2:c.177+6712G>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6712G>A
|
|
|
NM_000169.3:c.835C>T
(GLA)
MANE Select
|
NP_000160.1:p.Gln279Ter
|
|
|
NR_164783.1:n.914C>T
(GLA)
|
|
|
