ENST00000486121.7:c.*411A>C
(GLA)
|
ENSP00000501124.2:n.*411A>C
|
|
ENST00000674127.2:c.*468A>C
(GLA)
|
ENSP00000501044.2:n.*468A>C
|
|
ENST00000710365.1:c.1040A>C
(GLA)
|
ENSP00000518234.1:p.Asp347Ala
|
|
ENST00000218516.4:c.965A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Asp322Ala
|
|
ENST00000466414.2:n.1101A>C
(GLA)
|
|
|
ENST00000468823.2:n.2117A>C
(GLA)
|
|
|
ENST00000479445.2:n.1579A>C
(GLA)
|
|
|
ENST00000480513.6:c.*273A>C
(GLA)
|
ENSP00000497055.1:n.*273A>C
|
|
ENST00000486121.6:c.1010A>C
(GLA)
|
|
|
ENST00000649178.1:c.1088A>C
(GLA)
|
ENSP00000498186.1:p.Asp363Ala
|
|
ENST00000674127.1:c.1065A>C
(GLA)
|
ENSP00000501044.1:n.1065A>C
|
|
ENST00000674142.1:n.1269A>C
(GLA)
|
|
|
ENST00000674634.2:c.965A>C
(GLA)
|
ENSP00000502629.2:p.Asp322Ala
|
|
ENST00000675592.1:c.802-305A>C
(GLA)
|
ENSP00000502239.1:n.802-305A>C
|
|
ENST00000675799.1:c.*490A>C
(GLA)
|
ENSP00000502661.1:n.*490A>C
|
|
ENST00000675968.1:n.3836A>C
(GLA)
|
|
|
ENST00000676156.1:c.929A>C
(GLA)
|
ENSP00000501730.1:p.Asp310Ala
|
|
ENST00000676372.1:c.1031A>C
(GLA)
|
ENSP00000502805.1:n.1031A>C
|
|
ENST00000218516.3:c.965A>C
(GLA)
|
ENSP00000218516.3:p.Asp322Ala
|
|
ENST00000409170.3:c.300+2947T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2947T>G
|
|
ENST00000409338.5:c.177+6582T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6582T>G
|
|
ENST00000466414.1:n.291A>C
(GLA)
|
|
|
ENST00000493905.6:c.*353A>C
(GLA)
|
ENSP00000476935.1:n.*353A>C
|
|
NM_000169.2:c.965A>C , LRG_672t1:c.965A>C
(GLA)
|
NP_000160.1:p.Asp322Ala
|
|
NM_001199973.1:c.408+2947T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2947T>G
|
|
NM_001199974.1:c.285+6582T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6582T>G
|
|
XR_938397.1:n.1050A>C
(GLA)
|
|
|
XR_938397.2:n.1071A>C
(GLA)
|
|
|
NM_001199973.2:c.300+2947T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2947T>G
|
|
NM_001199974.2:c.177+6582T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6582T>G
|
|
NM_000169.3:c.965A>C
(GLA)
MANE Select
|
NP_000160.1:p.Asp322Ala
|
|
NR_164783.1:n.1044A>C
(GLA)
|
|
|