ENST00000486121.7:c.*413C>G
(GLA)
|
ENSP00000501124.2:n.*413C>G
|
|
ENST00000674127.2:c.*470C>G
(GLA)
|
ENSP00000501044.2:n.*470C>G
|
|
ENST00000710365.1:c.1042C>G
(GLA)
|
ENSP00000518234.1:p.Pro348Ala
|
|
ENST00000218516.4:c.967C>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Pro323Ala
|
|
ENST00000466414.2:n.1103C>G
(GLA)
|
|
|
ENST00000468823.2:n.2119C>G
(GLA)
|
|
|
ENST00000479445.2:n.1581C>G
(GLA)
|
|
|
ENST00000480513.6:c.*275C>G
(GLA)
|
ENSP00000497055.1:n.*275C>G
|
|
ENST00000486121.6:c.1012C>G
(GLA)
|
|
|
ENST00000649178.1:c.1090C>G
(GLA)
|
ENSP00000498186.1:p.Pro364Ala
|
|
ENST00000674127.1:c.1067C>G
(GLA)
|
ENSP00000501044.1:n.1067C>G
|
|
ENST00000674142.1:n.1271C>G
(GLA)
|
|
|
ENST00000674634.2:c.967C>G
(GLA)
|
ENSP00000502629.2:p.Pro323Ala
|
|
ENST00000675592.1:c.802-303C>G
(GLA)
|
ENSP00000502239.1:n.802-303C>G
|
|
ENST00000675799.1:c.*492C>G
(GLA)
|
ENSP00000502661.1:n.*492C>G
|
|
ENST00000675968.1:n.3838C>G
(GLA)
|
|
|
ENST00000676156.1:c.931C>G
(GLA)
|
ENSP00000501730.1:p.Pro311Ala
|
|
ENST00000676372.1:c.1033C>G
(GLA)
|
ENSP00000502805.1:n.1033C>G
|
|
ENST00000218516.3:c.967C>G
(GLA)
|
ENSP00000218516.3:p.Pro323Ala
|
|
ENST00000409170.3:c.300+2945G>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2945G>C
|
|
ENST00000409338.5:c.177+6580G>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6580G>C
|
|
ENST00000466414.1:n.293C>G
(GLA)
|
|
|
ENST00000493905.6:c.*355C>G
(GLA)
|
ENSP00000476935.1:n.*355C>G
|
|
NM_000169.2:c.967C>G , LRG_672t1:c.967C>G
(GLA)
|
NP_000160.1:p.Pro323Ala
|
|
NM_001199973.1:c.408+2945G>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2945G>C
|
|
NM_001199974.1:c.285+6580G>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6580G>C
|
|
XR_938397.1:n.1052C>G
(GLA)
|
|
|
XR_938397.2:n.1073C>G
(GLA)
|
|
|
NM_001199973.2:c.300+2945G>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2945G>C
|
|
NM_001199974.2:c.177+6580G>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6580G>C
|
|
NM_000169.3:c.967C>G
(GLA)
MANE Select
|
NP_000160.1:p.Pro323Ala
|
|
NR_164783.1:n.1046C>G
(GLA)
|
|
|