ENST00000486121.7:c.*360C>A
(GLA)
|
ENSP00000501124.2:n.*360C>A
|
|
ENST00000674127.2:c.*417C>A
(GLA)
|
ENSP00000501044.2:n.*417C>A
|
|
ENST00000710365.1:c.989C>A
(GLA)
|
ENSP00000518234.1:p.Pro330His
|
|
ENST00000218516.4:c.914C>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Pro305His
|
|
ENST00000466414.2:n.1050C>A
(GLA)
|
|
|
ENST00000468823.2:n.2066C>A
(GLA)
|
|
|
ENST00000479445.2:n.1528C>A
(GLA)
|
|
|
ENST00000480513.6:c.*222C>A
(GLA)
|
ENSP00000497055.1:n.*222C>A
|
|
ENST00000486121.6:c.959C>A
(GLA)
|
|
|
ENST00000649178.1:c.1037C>A
(GLA)
|
ENSP00000498186.1:p.Pro346His
|
|
ENST00000674127.1:c.1014C>A
(GLA)
|
ENSP00000501044.1:n.1014C>A
|
|
ENST00000674142.1:n.1218C>A
(GLA)
|
|
|
ENST00000674634.2:c.914C>A
(GLA)
|
ENSP00000502629.2:p.Pro305His
|
|
ENST00000675592.1:c.801+330C>A
(GLA)
|
ENSP00000502239.1:n.801+330C>A
|
|
ENST00000675799.1:c.*439C>A
(GLA)
|
ENSP00000502661.1:n.*439C>A
|
|
ENST00000675968.1:n.3785C>A
(GLA)
|
|
|
ENST00000676156.1:c.878C>A
(GLA)
|
ENSP00000501730.1:p.Pro293His
|
|
ENST00000676372.1:c.980C>A
(GLA)
|
ENSP00000502805.1:n.980C>A
|
|
ENST00000218516.3:c.914C>A
(GLA)
|
ENSP00000218516.3:p.Pro305His
|
|
ENST00000409170.3:c.300+2998G>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2998G>T
|
|
ENST00000409338.5:c.177+6633G>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6633G>T
|
|
ENST00000466414.1:n.240C>A
(GLA)
|
|
|
ENST00000493905.6:c.*302C>A
(GLA)
|
ENSP00000476935.1:n.*302C>A
|
|
NM_000169.2:c.914C>A , LRG_672t1:c.914C>A
(GLA)
|
NP_000160.1:p.Pro305His
|
|
NM_001199973.1:c.408+2998G>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2998G>T
|
|
NM_001199974.1:c.285+6633G>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6633G>T
|
|
XR_938397.1:n.999C>A
(GLA)
|
|
|
XR_938397.2:n.1020C>A
(GLA)
|
|
|
NM_001199973.2:c.300+2998G>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2998G>T
|
|
NM_001199974.2:c.177+6633G>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6633G>T
|
|
NM_000169.3:c.914C>A
(GLA)
MANE Select
|
NP_000160.1:p.Pro305His
|
|
NR_164783.1:n.993C>A
(GLA)
|
|
|