|
ENST00000486121.7:c.*462T>C
(GLA)
|
ENSP00000501124.2:n.*462T>C
|
|
|
ENST00000674127.2:c.*519T>C
(GLA)
|
ENSP00000501044.2:n.*519T>C
|
|
|
ENST00000710365.1:c.1091T>C
(GLA)
|
ENSP00000518234.1:p.Val364Ala
|
|
|
ENST00000218516.4:c.1016T>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Val339Ala
|
|
|
ENST00000466414.2:n.1152T>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2438T>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1630T>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*324T>C
(GLA)
|
ENSP00000497055.1:n.*324T>C
|
|
|
ENST00000486121.6:c.1061T>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1139T>C
(GLA)
|
ENSP00000498186.1:p.Val380Ala
|
|
|
ENST00000674127.1:c.1116T>C
(GLA)
|
ENSP00000501044.1:n.1116T>C
|
|
|
ENST00000674142.1:n.1320T>C
(GLA)
|
|
|
|
ENST00000675592.1:c.818T>C
(GLA)
|
ENSP00000502239.1:p.Val273Ala
|
|
|
ENST00000675799.1:c.*541T>C
(GLA)
|
ENSP00000502661.1:n.*541T>C
|
|
|
ENST00000675968.1:n.3887T>C
(GLA)
|
|
|
|
ENST00000676156.1:c.980T>C
(GLA)
|
ENSP00000501730.1:p.Val327Ala
|
|
|
ENST00000676372.1:c.1082T>C
(GLA)
|
ENSP00000502805.1:n.1082T>C
|
|
|
ENST00000218516.3:c.1016T>C
(GLA)
|
ENSP00000218516.3:p.Val339Ala
|
|
|
ENST00000409170.3:c.300+2626A>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2626A>G
|
|
|
ENST00000409338.5:c.177+6261A>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6261A>G
|
|
|
ENST00000466414.1:n.342T>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*404T>C
(GLA)
|
ENSP00000476935.1:n.*404T>C
|
|
|
NM_000169.2:c.1016T>C , LRG_672t1:c.1016T>C
(GLA)
|
NP_000160.1:p.Val339Ala
|
|
|
NM_001199973.1:c.408+2626A>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2626A>G
|
|
|
NM_001199974.1:c.285+6261A>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6261A>G
|
|
|
XR_938397.1:n.1101T>C
(GLA)
|
|
|
|
XR_938397.2:n.1122T>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2626A>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2626A>G
|
|
|
NM_001199974.2:c.177+6261A>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6261A>G
|
|
|
NM_000169.3:c.1016T>C
(GLA)
MANE Select
|
NP_000160.1:p.Val339Ala
|
|
|
NR_164783.1:n.1095T>C
(GLA)
|
|
|
