ENST00000486121.7:c.*475T>C
(GLA)
|
ENSP00000501124.2:n.*475T>C
|
|
ENST00000674127.2:c.*532T>C
(GLA)
|
ENSP00000501044.2:n.*532T>C
|
|
ENST00000710365.1:c.1104T>C
(GLA)
|
ENSP00000518234.1:p.Pro368=
|
|
ENST00000218516.4:c.1029T>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Pro343=
|
|
ENST00000466414.2:n.1165T>C
(GLA)
|
|
|
ENST00000468823.2:n.2451T>C
(GLA)
|
|
|
ENST00000479445.2:n.1643T>C
(GLA)
|
|
|
ENST00000480513.6:c.*337T>C
(GLA)
|
ENSP00000497055.1:n.*337T>C
|
|
ENST00000486121.6:c.1074T>C
(GLA)
|
|
|
ENST00000649178.1:c.1152T>C
(GLA)
|
ENSP00000498186.1:p.Pro384=
|
|
ENST00000674127.1:c.1129T>C
(GLA)
|
ENSP00000501044.1:n.1129T>C
|
|
ENST00000674142.1:n.1333T>C
(GLA)
|
|
|
ENST00000675592.1:c.831T>C
(GLA)
|
ENSP00000502239.1:p.Pro277=
|
|
ENST00000675799.1:c.*554T>C
(GLA)
|
ENSP00000502661.1:n.*554T>C
|
|
ENST00000675968.1:n.3900T>C
(GLA)
|
|
|
ENST00000676156.1:c.993T>C
(GLA)
|
ENSP00000501730.1:p.Pro331=
|
|
ENST00000676372.1:c.1095T>C
(GLA)
|
ENSP00000502805.1:n.1095T>C
|
|
ENST00000218516.3:c.1029T>C
(GLA)
|
ENSP00000218516.3:p.Pro343=
|
|
ENST00000409170.3:c.300+2613A>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2613A>G
|
|
ENST00000409338.5:c.177+6248A>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6248A>G
|
|
ENST00000466414.1:n.355T>C
(GLA)
|
|
|
ENST00000493905.6:c.*417T>C
(GLA)
|
ENSP00000476935.1:n.*417T>C
|
|
NM_000169.2:c.1029T>C , LRG_672t1:c.1029T>C
(GLA)
|
NP_000160.1:p.Pro343=
|
|
NM_001199973.1:c.408+2613A>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2613A>G
|
|
NM_001199974.1:c.285+6248A>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6248A>G
|
|
XR_938397.1:n.1114T>C
(GLA)
|
|
|
XR_938397.2:n.1135T>C
(GLA)
|
|
|
NM_001199973.2:c.300+2613A>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2613A>G
|
|
NM_001199974.2:c.177+6248A>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6248A>G
|
|
NM_000169.3:c.1029T>C
(GLA)
MANE Select
|
NP_000160.1:p.Pro343=
|
|
NR_164783.1:n.1108T>C
(GLA)
|
|
|