|
ENST00000674127.2:c.*683C>T
(GLA)
|
ENSP00000501044.2:n.*683C>T
|
|
|
ENST00000710365.1:c.1255C>T
(GLA)
|
ENSP00000518234.1:p.Leu419=
|
|
|
ENST00000218516.4:c.1180C>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu394=
|
|
|
ENST00000466414.2:n.1316C>T
(GLA)
|
|
|
|
ENST00000468823.2:n.2602C>T
(GLA)
|
|
|
|
ENST00000479445.2:n.1794C>T
(GLA)
|
|
|
|
ENST00000649178.1:c.1303C>T
(GLA)
|
ENSP00000498186.1:p.Leu435=
|
|
|
ENST00000674127.1:c.1280C>T
(GLA)
|
ENSP00000501044.1:n.1280C>T
|
|
|
ENST00000674142.1:n.1421+63C>T
(GLA)
|
|
|
|
ENST00000675592.1:c.982C>T
(GLA)
|
ENSP00000502239.1:p.Leu328=
|
|
|
ENST00000675799.1:c.*705C>T
(GLA)
|
ENSP00000502661.1:n.*705C>T
|
|
|
ENST00000675968.1:n.4051C>T
(GLA)
|
|
|
|
ENST00000676156.1:c.1144C>T
(GLA)
|
ENSP00000501730.1:p.Leu382=
|
|
|
ENST00000676372.1:c.1246C>T
(GLA)
|
ENSP00000502805.1:n.1246C>T
|
|
|
ENST00000218516.3:c.1180C>T
(GLA)
|
ENSP00000218516.3:p.Leu394=
|
|
|
ENST00000409170.3:c.300+2462G>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2462G>A
|
|
|
ENST00000409338.5:c.177+6097G>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6097G>A
|
|
|
ENST00000466414.1:n.506C>T
(GLA)
|
|
|
|
ENST00000493905.6:c.*568C>T
(GLA)
|
ENSP00000476935.1:n.*568C>T
|
|
|
NM_000169.2:c.1180C>T , LRG_672t1:c.1180C>T
(GLA)
|
NP_000160.1:p.Leu394=
|
|
|
NM_001199973.1:c.408+2462G>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2462G>A
|
|
|
NM_001199974.1:c.285+6097G>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6097G>A
|
|
|
XR_938397.1:n.1265C>T
(GLA)
|
|
|
|
XR_938397.2:n.1286C>T
(GLA)
|
|
|
|
NM_001199973.2:c.300+2462G>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2462G>A
|
|
|
NM_001199974.2:c.177+6097G>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6097G>A
|
|
|
NM_000169.3:c.1180C>T
(GLA)
MANE Select
|
NP_000160.1:p.Leu394=
|
|
|
NR_164783.1:n.1259C>T
(GLA)
|
|
|
