ENST00000486121.7:c.*362C>A
(GLA)
|
ENSP00000501124.2:n.*362C>A
|
|
ENST00000674127.2:c.*419C>A
(GLA)
|
ENSP00000501044.2:n.*419C>A
|
|
ENST00000710365.1:c.991C>A
(GLA)
|
ENSP00000518234.1:p.Gln331Lys
|
|
ENST00000218516.4:c.916C>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gln306Lys
|
|
ENST00000466414.2:n.1052C>A
(GLA)
|
|
|
ENST00000468823.2:n.2068C>A
(GLA)
|
|
|
ENST00000479445.2:n.1530C>A
(GLA)
|
|
|
ENST00000480513.6:c.*224C>A
(GLA)
|
ENSP00000497055.1:n.*224C>A
|
|
ENST00000486121.6:c.961C>A
(GLA)
|
|
|
ENST00000649178.1:c.1039C>A
(GLA)
|
ENSP00000498186.1:p.Gln347Lys
|
|
ENST00000674127.1:c.1016C>A
(GLA)
|
ENSP00000501044.1:n.1016C>A
|
|
ENST00000674142.1:n.1220C>A
(GLA)
|
|
|
ENST00000674634.2:c.916C>A
(GLA)
|
ENSP00000502629.2:p.Gln306Lys
|
|
ENST00000675592.1:c.801+332C>A
(GLA)
|
ENSP00000502239.1:n.801+332C>A
|
|
ENST00000675799.1:c.*441C>A
(GLA)
|
ENSP00000502661.1:n.*441C>A
|
|
ENST00000675968.1:n.3787C>A
(GLA)
|
|
|
ENST00000676156.1:c.880C>A
(GLA)
|
ENSP00000501730.1:p.Gln294Lys
|
|
ENST00000676372.1:c.982C>A
(GLA)
|
ENSP00000502805.1:n.982C>A
|
|
ENST00000218516.3:c.916C>A
(GLA)
|
ENSP00000218516.3:p.Gln306Lys
|
|
ENST00000409170.3:c.300+2996G>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2996G>T
|
|
ENST00000409338.5:c.177+6631G>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6631G>T
|
|
ENST00000466414.1:n.242C>A
(GLA)
|
|
|
ENST00000493905.6:c.*304C>A
(GLA)
|
ENSP00000476935.1:n.*304C>A
|
|
NM_000169.2:c.916C>A , LRG_672t1:c.916C>A
(GLA)
|
NP_000160.1:p.Gln306Lys
|
|
NM_001199973.1:c.408+2996G>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2996G>T
|
|
NM_001199974.1:c.285+6631G>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6631G>T
|
|
XR_938397.1:n.1001C>A
(GLA)
|
|
|
XR_938397.2:n.1022C>A
(GLA)
|
|
|
NM_001199973.2:c.300+2996G>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2996G>T
|
|
NM_001199974.2:c.177+6631G>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6631G>T
|
|
NM_000169.3:c.916C>A
(GLA)
MANE Select
|
NP_000160.1:p.Gln306Lys
|
|
NR_164783.1:n.995C>A
(GLA)
|
|
|