|
ENST00000486121.7:c.*599A>G
(GLA)
|
ENSP00000501124.2:n.*599A>G
|
|
|
ENST00000674127.2:c.*656A>G
(GLA)
|
ENSP00000501044.2:n.*656A>G
|
|
|
ENST00000710365.1:c.1228A>G
(GLA)
|
ENSP00000518234.1:p.Thr410Ala
|
|
|
ENST00000218516.4:c.1153A>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Thr385Ala
|
|
|
ENST00000466414.2:n.1289A>G
(GLA)
|
|
|
|
ENST00000468823.2:n.2575A>G
(GLA)
|
|
|
|
ENST00000479445.2:n.1767A>G
(GLA)
|
|
|
|
ENST00000480513.6:c.*461A>G
(GLA)
|
ENSP00000497055.1:n.*461A>G
|
|
|
ENST00000486121.6:c.1198A>G
(GLA)
|
|
|
|
ENST00000649178.1:c.1276A>G
(GLA)
|
ENSP00000498186.1:p.Thr426Ala
|
|
|
ENST00000674127.1:c.1253A>G
(GLA)
|
ENSP00000501044.1:n.1253A>G
|
|
|
ENST00000674142.1:n.1421+36A>G
(GLA)
|
|
|
|
ENST00000675592.1:c.955A>G
(GLA)
|
ENSP00000502239.1:p.Thr319Ala
|
|
|
ENST00000675799.1:c.*678A>G
(GLA)
|
ENSP00000502661.1:n.*678A>G
|
|
|
ENST00000675968.1:n.4024A>G
(GLA)
|
|
|
|
ENST00000676156.1:c.1117A>G
(GLA)
|
ENSP00000501730.1:p.Thr373Ala
|
|
|
ENST00000676372.1:c.1219A>G
(GLA)
|
ENSP00000502805.1:n.1219A>G
|
|
|
ENST00000218516.3:c.1153A>G
(GLA)
|
ENSP00000218516.3:p.Thr385Ala
|
|
|
ENST00000409170.3:c.300+2489T>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2489T>C
|
|
|
ENST00000409338.5:c.177+6124T>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6124T>C
|
|
|
ENST00000466414.1:n.479A>G
(GLA)
|
|
|
|
ENST00000493905.6:c.*541A>G
(GLA)
|
ENSP00000476935.1:n.*541A>G
|
|
|
NM_000169.2:c.1153A>G , LRG_672t1:c.1153A>G
(GLA)
|
NP_000160.1:p.Thr385Ala
|
|
|
NM_001199973.1:c.408+2489T>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2489T>C
|
|
|
NM_001199974.1:c.285+6124T>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6124T>C
|
|
|
XR_938397.1:n.1238A>G
(GLA)
|
|
|
|
XR_938397.2:n.1259A>G
(GLA)
|
|
|
|
NM_001199973.2:c.300+2489T>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2489T>C
|
|
|
NM_001199974.2:c.177+6124T>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6124T>C
|
|
|
NM_000169.3:c.1153A>G
(GLA)
MANE Select
|
NP_000160.1:p.Thr385Ala
|
|
|
NR_164783.1:n.1232A>G
(GLA)
|
|
|
