|
ENST00000486121.7:c.*223A>C
(GLA)
|
ENSP00000501124.2:n.*223A>C
|
|
|
ENST00000674127.2:c.*280A>C
(GLA)
|
ENSP00000501044.2:n.*280A>C
|
|
|
ENST00000710365.1:c.852A>C
(GLA)
|
ENSP00000518234.1:p.Pro284=
|
|
|
ENST00000218516.4:c.777A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Pro259=
|
|
|
ENST00000466414.2:n.696A>C
(GLA)
|
|
|
|
ENST00000468823.2:n.1712A>C
(GLA)
|
|
|
|
ENST00000479445.2:n.1174A>C
(GLA)
|
|
|
|
ENST00000480513.6:c.*85A>C
(GLA)
|
ENSP00000497055.1:n.*85A>C
|
|
|
ENST00000486121.6:c.822A>C
(GLA)
|
|
|
|
ENST00000649178.1:c.900A>C
(GLA)
|
ENSP00000498186.1:p.Pro300=
|
|
|
ENST00000674127.1:c.877A>C
(GLA)
|
ENSP00000501044.1:n.877A>C
|
|
|
ENST00000674142.1:n.864A>C
(GLA)
|
|
|
|
ENST00000674634.2:c.777A>C
(GLA)
|
ENSP00000502629.2:p.Pro259=
|
|
|
ENST00000675592.1:c.777A>C
(GLA)
|
ENSP00000502239.1:p.Pro259=
|
|
|
ENST00000675799.1:c.*85A>C
(GLA)
|
ENSP00000502661.1:n.*85A>C
|
|
|
ENST00000675968.1:n.3431A>C
(GLA)
|
|
|
|
ENST00000676156.1:c.741A>C
(GLA)
|
ENSP00000501730.1:p.Pro247=
|
|
|
ENST00000676372.1:c.777A>C
(GLA)
|
ENSP00000502805.1:p.Pro259=
|
|
|
ENST00000218516.3:c.777A>C
(GLA)
|
ENSP00000218516.3:p.Pro259=
|
|
|
ENST00000409170.3:c.300+3352T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3352T>G
|
|
|
ENST00000409338.5:c.177+6987T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6987T>G
|
|
|
ENST00000468823.1:n.326A>C
(GLA)
|
|
|
|
ENST00000493905.6:c.*165A>C
(GLA)
|
ENSP00000476935.1:n.*165A>C
|
|
|
NM_000169.2:c.777A>C , LRG_672t1:c.777A>C
(GLA)
|
NP_000160.1:p.Pro259=
|
|
|
NM_001199973.1:c.408+3352T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3352T>G
|
|
|
NM_001199974.1:c.285+6987T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6987T>G
|
|
|
XR_938397.1:n.862A>C
(GLA)
|
|
|
|
XR_938397.2:n.883A>C
(GLA)
|
|
|
|
NM_001199973.2:c.300+3352T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3352T>G
|
|
|
NM_001199974.2:c.177+6987T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6987T>G
|
|
|
NM_000169.3:c.777A>C
(GLA)
MANE Select
|
NP_000160.1:p.Pro259=
|
|
|
NR_164783.1:n.856A>C
(GLA)
|
|
|
