|
ENST00000486121.7:c.*506A>C
(GLA)
|
ENSP00000501124.2:n.*506A>C
|
|
|
ENST00000674127.2:c.*563A>C
(GLA)
|
ENSP00000501044.2:n.*563A>C
|
|
|
ENST00000710365.1:c.1135A>C
(GLA)
|
ENSP00000518234.1:p.Ile379Leu
|
|
|
ENST00000218516.4:c.1060A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ile354Leu
|
|
|
ENST00000466414.2:n.1196A>C
(GLA)
|
|
|
|
ENST00000468823.2:n.2482A>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1674A>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*368A>C
(GLA)
|
ENSP00000497055.1:n.*368A>C
|
|
|
ENST00000486121.6:c.1105A>C
(GLA)
|
|
|
|
ENST00000649178.1:c.1183A>C
(GLA)
|
ENSP00000498186.1:p.Ile395Leu
|
|
|
ENST00000674127.1:c.1160A>C
(GLA)
|
ENSP00000501044.1:n.1160A>C
|
|
|
ENST00000674142.1:n.1364A>C
(GLA)
|
|
|
|
ENST00000675592.1:c.862A>C
(GLA)
|
ENSP00000502239.1:p.Ile288Leu
|
|
|
ENST00000675799.1:c.*585A>C
(GLA)
|
ENSP00000502661.1:n.*585A>C
|
|
|
ENST00000675968.1:n.3931A>C
(GLA)
|
|
|
|
ENST00000676156.1:c.1024A>C
(GLA)
|
ENSP00000501730.1:p.Ile342Leu
|
|
|
ENST00000676372.1:c.1126A>C
(GLA)
|
ENSP00000502805.1:n.1126A>C
|
|
|
ENST00000218516.3:c.1060A>C
(GLA)
|
ENSP00000218516.3:p.Ile354Leu
|
|
|
ENST00000409170.3:c.300+2582T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2582T>G
|
|
|
ENST00000409338.5:c.177+6217T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6217T>G
|
|
|
ENST00000466414.1:n.386A>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*448A>C
(GLA)
|
ENSP00000476935.1:n.*448A>C
|
|
|
NM_000169.2:c.1060A>C , LRG_672t1:c.1060A>C
(GLA)
|
NP_000160.1:p.Ile354Leu
|
|
|
NM_001199973.1:c.408+2582T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2582T>G
|
|
|
NM_001199974.1:c.285+6217T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6217T>G
|
|
|
XR_938397.1:n.1145A>C
(GLA)
|
|
|
|
XR_938397.2:n.1166A>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+2582T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2582T>G
|
|
|
NM_001199974.2:c.177+6217T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6217T>G
|
|
|
NM_000169.3:c.1060A>C
(GLA)
MANE Select
|
NP_000160.1:p.Ile354Leu
|
|
|
NR_164783.1:n.1139A>C
(GLA)
|
|
|
