|
ENST00000486121.7:c.*571A>G
(GLA)
|
ENSP00000501124.2:n.*571A>G
|
|
|
ENST00000674127.2:c.*628A>G
(GLA)
|
ENSP00000501044.2:n.*628A>G
|
|
|
ENST00000710365.1:c.1200A>G
(GLA)
|
ENSP00000518234.1:p.Gly400=
|
|
|
ENST00000218516.4:c.1125A>G
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gly375=
|
|
|
ENST00000466414.2:n.1261A>G
(GLA)
|
|
|
|
ENST00000468823.2:n.2547A>G
(GLA)
|
|
|
|
ENST00000479445.2:n.1739A>G
(GLA)
|
|
|
|
ENST00000480513.6:c.*433A>G
(GLA)
|
ENSP00000497055.1:n.*433A>G
|
|
|
ENST00000486121.6:c.1170A>G
(GLA)
|
|
|
|
ENST00000649178.1:c.1248A>G
(GLA)
|
ENSP00000498186.1:p.Gly416=
|
|
|
ENST00000674127.1:c.1225A>G
(GLA)
|
ENSP00000501044.1:n.1225A>G
|
|
|
ENST00000674142.1:n.1421+8A>G
(GLA)
|
|
|
|
ENST00000675592.1:c.927A>G
(GLA)
|
ENSP00000502239.1:p.Gly309=
|
|
|
ENST00000675799.1:c.*650A>G
(GLA)
|
ENSP00000502661.1:n.*650A>G
|
|
|
ENST00000675968.1:n.3996A>G
(GLA)
|
|
|
|
ENST00000676156.1:c.1089A>G
(GLA)
|
ENSP00000501730.1:p.Gly363=
|
|
|
ENST00000676372.1:c.1191A>G
(GLA)
|
ENSP00000502805.1:n.1191A>G
|
|
|
ENST00000218516.3:c.1125A>G
(GLA)
|
ENSP00000218516.3:p.Gly375=
|
|
|
ENST00000409170.3:c.300+2517T>C
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2517T>C
|
|
|
ENST00000409338.5:c.177+6152T>C
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6152T>C
|
|
|
ENST00000466414.1:n.451A>G
(GLA)
|
|
|
|
ENST00000493905.6:c.*513A>G
(GLA)
|
ENSP00000476935.1:n.*513A>G
|
|
|
NM_000169.2:c.1125A>G , LRG_672t1:c.1125A>G
(GLA)
|
NP_000160.1:p.Gly375=
|
|
|
NM_001199973.1:c.408+2517T>C
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2517T>C
|
|
|
NM_001199974.1:c.285+6152T>C
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6152T>C
|
|
|
XR_938397.1:n.1210A>G
(GLA)
|
|
|
|
XR_938397.2:n.1231A>G
(GLA)
|
|
|
|
NM_001199973.2:c.300+2517T>C
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2517T>C
|
|
|
NM_001199974.2:c.177+6152T>C
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6152T>C
|
|
|
NM_000169.3:c.1125A>G
(GLA)
MANE Select
|
NP_000160.1:p.Gly375=
|
|
|
NR_164783.1:n.1204A>G
(GLA)
|
|
|
