|
ENST00000486121.7:c.*325T>C
(GLA)
|
ENSP00000501124.2:n.*325T>C
|
|
|
ENST00000674127.2:c.*382T>C
(GLA)
|
ENSP00000501044.2:n.*382T>C
|
|
|
ENST00000710365.1:c.954T>C
(GLA)
|
ENSP00000518234.1:p.Pro318=
|
|
|
ENST00000218516.4:c.879T>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Pro293=
|
|
|
ENST00000466414.2:n.1015T>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2031T>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1493T>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*187T>C
(GLA)
|
ENSP00000497055.1:n.*187T>C
|
|
|
ENST00000486121.6:c.924T>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1002T>C
(GLA)
|
ENSP00000498186.1:p.Pro334=
|
|
|
ENST00000674127.1:c.979T>C
(GLA)
|
ENSP00000501044.1:n.979T>C
|
|
|
ENST00000674142.1:n.1183T>C
(GLA)
|
|
|
|
ENST00000674634.2:c.879T>C
(GLA)
|
ENSP00000502629.2:p.Pro293=
|
|
|
ENST00000675592.1:c.801+295T>C
(GLA)
|
ENSP00000502239.1:n.801+295T>C
|
|
|
ENST00000675799.1:c.*404T>C
(GLA)
|
ENSP00000502661.1:n.*404T>C
|
|
|
ENST00000675968.1:n.3750T>C
(GLA)
|
|
|
|
ENST00000676156.1:c.843T>C
(GLA)
|
ENSP00000501730.1:p.Pro281=
|
|
|
ENST00000676372.1:c.945T>C
(GLA)
|
ENSP00000502805.1:n.945T>C
|
|
|
ENST00000218516.3:c.879T>C
(GLA)
|
ENSP00000218516.3:p.Pro293=
|
|
|
ENST00000409170.3:c.300+3033A>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3033A>G
|
|
|
ENST00000409338.5:c.177+6668A>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6668A>G
|
|
|
ENST00000466414.1:n.205T>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*267T>C
(GLA)
|
ENSP00000476935.1:n.*267T>C
|
|
|
NM_000169.2:c.879T>C , LRG_672t1:c.879T>C
(GLA)
|
NP_000160.1:p.Pro293=
|
|
|
NM_001199973.1:c.408+3033A>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3033A>G
|
|
|
NM_001199974.1:c.285+6668A>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6668A>G
|
|
|
XR_938397.1:n.964T>C
(GLA)
|
|
|
|
XR_938397.2:n.985T>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+3033A>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3033A>G
|
|
|
NM_001199974.2:c.177+6668A>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6668A>G
|
|
|
NM_000169.3:c.879T>C
(GLA)
MANE Select
|
NP_000160.1:p.Pro293=
|
|
|
NR_164783.1:n.958T>C
(GLA)
|
|
|
