|
NM_000169.3:c.1168G>A
(GLA)
MANE Select
|
NP_000160.1:p.Val390Met
|
|
ENST00000218516.4:c.1168G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Val390Met
|
|
NM_000169.2:c.1168G>A , LRG_672t1:c.1168G>A
(GLA)
|
NP_000160.1:p.Val390Met
|
|
NM_001199973.1:c.408+2474C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2474C>T
|
|
NM_001199973.2:c.300+2474C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2474C>T
|
|
NM_001199974.1:c.285+6109C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6109C>T
|
|
NM_001199974.2:c.177+6109C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6109C>T
|
|
NR_164783.1:n.1247G>A
(GLA)
|
|
|
ENST00000218516.3:c.1168G>A
(GLA)
|
ENSP00000218516.3:p.Val390Met
|
|
ENST00000409170.3:c.300+2474C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2474C>T
|
|
ENST00000409338.5:c.177+6109C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6109C>T
|
|
ENST00000466414.1:n.494G>A
(GLA)
|
|
|
ENST00000466414.2:n.1304G>A
(GLA)
|
|
|
ENST00000468823.2:n.2590G>A
(GLA)
|
|
|
ENST00000479445.2:n.1782G>A
(GLA)
|
|
|
ENST00000493905.6:c.*556G>A
(GLA)
|
ENSP00000476935.1:n.*556G>A
|
|
ENST00000649178.1:c.1291G>A
(GLA)
|
ENSP00000498186.1:p.Val431Met
|
|
ENST00000674127.1:c.1268G>A
(GLA)
|
ENSP00000501044.1:n.1268G>A
|
|
ENST00000674127.2:c.*671G>A
(GLA)
|
ENSP00000501044.2:n.*671G>A
|
|
ENST00000674142.1:n.1421+51G>A
(GLA)
|
|
|
ENST00000675592.1:c.970G>A
(GLA)
|
ENSP00000502239.1:p.Val324Met
|
|
ENST00000675799.1:c.*693G>A
(GLA)
|
ENSP00000502661.1:n.*693G>A
|
|
ENST00000675968.1:n.4039G>A
(GLA)
|
|
|
ENST00000676156.1:c.1132G>A
(GLA)
|
ENSP00000501730.1:p.Val378Met
|
|
ENST00000676372.1:c.1234G>A
(GLA)
|
ENSP00000502805.1:n.1234G>A
|
|
ENST00000710365.1:c.1243G>A
(GLA)
|
ENSP00000518234.1:p.Val415Met
|
|
XR_938397.1:n.1253G>A
(GLA)
|
|
|
XR_938397.2:n.1274G>A
(GLA)
|
|
