ENST00000674127.2:c.*685A>C
(GLA)
|
ENSP00000501044.2:n.*685A>C
|
|
ENST00000710365.1:c.1257A>C
(GLA)
|
ENSP00000518234.1:p.Leu419=
|
|
ENST00000218516.4:c.1182A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu394=
|
|
ENST00000466414.2:n.1318A>C
(GLA)
|
|
|
ENST00000468823.2:n.2604A>C
(GLA)
|
|
|
ENST00000479445.2:n.1796A>C
(GLA)
|
|
|
ENST00000649178.1:c.1305A>C
(GLA)
|
ENSP00000498186.1:p.Leu435=
|
|
ENST00000674127.1:c.1282A>C
(GLA)
|
ENSP00000501044.1:n.1282A>C
|
|
ENST00000674142.1:n.1421+65A>C
(GLA)
|
|
|
ENST00000675592.1:c.984A>C
(GLA)
|
ENSP00000502239.1:p.Leu328=
|
|
ENST00000675799.1:c.*707A>C
(GLA)
|
ENSP00000502661.1:n.*707A>C
|
|
ENST00000675968.1:n.4053A>C
(GLA)
|
|
|
ENST00000676156.1:c.1146A>C
(GLA)
|
ENSP00000501730.1:p.Leu382=
|
|
ENST00000676372.1:c.1248A>C
(GLA)
|
ENSP00000502805.1:n.1248A>C
|
|
ENST00000218516.3:c.1182A>C
(GLA)
|
ENSP00000218516.3:p.Leu394=
|
|
ENST00000409170.3:c.300+2460T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2460T>G
|
|
ENST00000409338.5:c.177+6095T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6095T>G
|
|
ENST00000466414.1:n.508A>C
(GLA)
|
|
|
ENST00000493905.6:c.*570A>C
(GLA)
|
ENSP00000476935.1:n.*570A>C
|
|
NM_000169.2:c.1182A>C , LRG_672t1:c.1182A>C
(GLA)
|
NP_000160.1:p.Leu394=
|
|
NM_001199973.1:c.408+2460T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2460T>G
|
|
NM_001199974.1:c.285+6095T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6095T>G
|
|
XR_938397.1:n.1267A>C
(GLA)
|
|
|
XR_938397.2:n.1288A>C
(GLA)
|
|
|
NM_001199973.2:c.300+2460T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2460T>G
|
|
NM_001199974.2:c.177+6095T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6095T>G
|
|
NM_000169.3:c.1182A>C
(GLA)
MANE Select
|
NP_000160.1:p.Leu394=
|
|
NR_164783.1:n.1261A>C
(GLA)
|
|
|