|
ENST00000486121.7:c.*319T>G
(GLA)
|
ENSP00000501124.2:n.*319T>G
|
|
|
ENST00000674127.2:c.*376T>G
(GLA)
|
ENSP00000501044.2:n.*376T>G
|
|
|
ENST00000710365.1:c.948T>G
(GLA)
|
ENSP00000518234.1:p.Ala316=
|
|
|
ENST00000218516.4:c.873T>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala291=
|
|
|
ENST00000466414.2:n.1009T>G
(GLA)
|
|
|
|
ENST00000468823.2:n.2025T>G
(GLA)
|
|
|
|
ENST00000479445.2:n.1487T>G
(GLA)
|
|
|
|
ENST00000480513.6:c.*181T>G
(GLA)
|
ENSP00000497055.1:n.*181T>G
|
|
|
ENST00000486121.6:c.918T>G
(GLA)
|
|
|
|
ENST00000649178.1:c.996T>G
(GLA)
|
ENSP00000498186.1:p.Ala332=
|
|
|
ENST00000674127.1:c.973T>G
(GLA)
|
ENSP00000501044.1:n.973T>G
|
|
|
ENST00000674142.1:n.1177T>G
(GLA)
|
|
|
|
ENST00000674634.2:c.873T>G
(GLA)
|
ENSP00000502629.2:p.Ala291=
|
|
|
ENST00000675592.1:c.801+289T>G
(GLA)
|
ENSP00000502239.1:n.801+289T>G
|
|
|
ENST00000675799.1:c.*398T>G
(GLA)
|
ENSP00000502661.1:n.*398T>G
|
|
|
ENST00000675968.1:n.3744T>G
(GLA)
|
|
|
|
ENST00000676156.1:c.837T>G
(GLA)
|
ENSP00000501730.1:p.Ala279=
|
|
|
ENST00000676372.1:c.939T>G
(GLA)
|
ENSP00000502805.1:n.939T>G
|
|
|
ENST00000218516.3:c.873T>G
(GLA)
|
ENSP00000218516.3:p.Ala291=
|
|
|
ENST00000409170.3:c.300+3039A>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3039A>C
|
|
|
ENST00000409338.5:c.177+6674A>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6674A>C
|
|
|
ENST00000466414.1:n.199T>G
(GLA)
|
|
|
|
ENST00000493905.6:c.*261T>G
(GLA)
|
ENSP00000476935.1:n.*261T>G
|
|
|
NM_000169.2:c.873T>G , LRG_672t1:c.873T>G
(GLA)
|
NP_000160.1:p.Ala291=
|
|
|
NM_001199973.1:c.408+3039A>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3039A>C
|
|
|
NM_001199974.1:c.285+6674A>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6674A>C
|
|
|
XR_938397.1:n.958T>G
(GLA)
|
|
|
|
XR_938397.2:n.979T>G
(GLA)
|
|
|
|
NM_001199973.2:c.300+3039A>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3039A>C
|
|
|
NM_001199974.2:c.177+6674A>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6674A>C
|
|
|
NM_000169.3:c.873T>G
(GLA)
MANE Select
|
NP_000160.1:p.Ala291=
|
|
|
NR_164783.1:n.952T>G
(GLA)
|
|
|
