|
ENST00000486121.7:c.*603A>C
(GLA)
|
ENSP00000501124.2:n.*603A>C
|
|
|
ENST00000674127.2:c.*660A>C
(GLA)
|
ENSP00000501044.2:n.*660A>C
|
|
|
ENST00000710365.1:c.1232A>C
(GLA)
|
ENSP00000518234.1:p.Gln411Pro
|
|
|
ENST00000218516.4:c.1157A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Gln386Pro
|
|
|
ENST00000466414.2:n.1293A>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2579A>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1771A>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*465A>C
(GLA)
|
ENSP00000497055.1:n.*465A>C
|
|
|
ENST00000486121.6:c.1202A>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1280A>C
(GLA)
|
ENSP00000498186.1:p.Gln427Pro
|
|
|
ENST00000674127.1:c.1257A>C
(GLA)
|
ENSP00000501044.1:n.1257A>C
|
|
|
ENST00000674142.1:n.1421+40A>C
(GLA)
|
|
|
|
ENST00000675592.1:c.959A>C
(GLA)
|
ENSP00000502239.1:p.Gln320Pro
|
|
|
ENST00000675799.1:c.*682A>C
(GLA)
|
ENSP00000502661.1:n.*682A>C
|
|
|
ENST00000675968.1:n.4028A>C
(GLA)
|
|
|
|
ENST00000676156.1:c.1121A>C
(GLA)
|
ENSP00000501730.1:p.Gln374Pro
|
|
|
ENST00000676372.1:c.1223A>C
(GLA)
|
ENSP00000502805.1:n.1223A>C
|
|
|
ENST00000218516.3:c.1157A>C
(GLA)
|
ENSP00000218516.3:p.Gln386Pro
|
|
|
ENST00000409170.3:c.300+2485T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2485T>G
|
|
|
ENST00000409338.5:c.177+6120T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6120T>G
|
|
|
ENST00000466414.1:n.483A>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*545A>C
(GLA)
|
ENSP00000476935.1:n.*545A>C
|
|
|
NM_000169.2:c.1157A>C , LRG_672t1:c.1157A>C
(GLA)
|
NP_000160.1:p.Gln386Pro
|
|
|
NM_001199973.1:c.408+2485T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2485T>G
|
|
|
NM_001199974.1:c.285+6120T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6120T>G
|
|
|
XR_938397.1:n.1242A>C
(GLA)
|
|
|
|
XR_938397.2:n.1263A>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2485T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2485T>G
|
|
|
NM_001199974.2:c.177+6120T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6120T>G
|
|
|
NM_000169.3:c.1157A>C
(GLA)
MANE Select
|
NP_000160.1:p.Gln386Pro
|
|
|
NR_164783.1:n.1236A>C
(GLA)
|
|
|
