|
ENST00000486121.7:c.*237A>T
(GLA)
|
ENSP00000501124.2:n.*237A>T
|
|
|
ENST00000674127.2:c.*294A>T
(GLA)
|
ENSP00000501044.2:n.*294A>T
|
|
|
ENST00000710365.1:c.866A>T
(GLA)
|
ENSP00000518234.1:p.Asp289Val
|
|
|
ENST00000218516.4:c.791A>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Asp264Val
|
|
|
ENST00000466414.2:n.710A>T
(GLA)
|
|
|
|
ENST00000468823.2:n.1726A>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1188A>T
(GLA)
|
|
|
|
ENST00000480513.6:c.*99A>T
(GLA)
|
ENSP00000497055.1:n.*99A>T
|
|
|
ENST00000486121.6:c.836A>T
(GLA)
|
|
|
|
ENST00000649178.1:c.914A>T
(GLA)
|
ENSP00000498186.1:p.Asp305Val
|
|
|
ENST00000674127.1:c.891A>T
(GLA)
|
ENSP00000501044.1:n.891A>T
|
|
|
ENST00000674142.1:n.878A>T
(GLA)
|
|
|
|
ENST00000674634.2:c.791A>T
(GLA)
|
ENSP00000502629.2:p.Asp264Val
|
|
|
ENST00000675592.1:c.791A>T
(GLA)
|
ENSP00000502239.1:p.Asp264Val
|
|
|
ENST00000675799.1:c.*99A>T
(GLA)
|
ENSP00000502661.1:n.*99A>T
|
|
|
ENST00000675968.1:n.3445A>T
(GLA)
|
|
|
|
ENST00000676156.1:c.755A>T
(GLA)
|
ENSP00000501730.1:p.Asp252Val
|
|
|
ENST00000676372.1:c.791A>T
(GLA)
|
ENSP00000502805.1:p.Asp264Val
|
|
|
ENST00000218516.3:c.791A>T
(GLA)
|
ENSP00000218516.3:p.Asp264Val
|
|
|
ENST00000409170.3:c.300+3338T>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3338T>A
|
|
|
ENST00000409338.5:c.177+6973T>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6973T>A
|
|
|
ENST00000468823.1:n.340A>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*179A>T
(GLA)
|
ENSP00000476935.1:n.*179A>T
|
|
|
NM_000169.2:c.791A>T , LRG_672t1:c.791A>T
(GLA)
|
NP_000160.1:p.Asp264Val
|
|
|
NM_001199973.1:c.408+3338T>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3338T>A
|
|
|
NM_001199974.1:c.285+6973T>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6973T>A
|
|
|
XR_938397.1:n.876A>T
(GLA)
|
|
|
|
XR_938397.2:n.897A>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+3338T>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3338T>A
|
|
|
NM_001199974.2:c.177+6973T>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6973T>A
|
|
|
NM_000169.3:c.791A>T
(GLA)
MANE Select
|
NP_000160.1:p.Asp264Val
|
|
|
NR_164783.1:n.870A>T
(GLA)
|
|
|
