ENST00000486121.7:c.*368A>C
(GLA)
|
ENSP00000501124.2:n.*368A>C
|
|
ENST00000674127.2:c.*425A>C
(GLA)
|
ENSP00000501044.2:n.*425A>C
|
|
ENST00000710365.1:c.997A>C
(GLA)
|
ENSP00000518234.1:p.Lys333Gln
|
|
ENST00000218516.4:c.922A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Lys308Gln
|
|
ENST00000466414.2:n.1058A>C
(GLA)
|
|
|
ENST00000468823.2:n.2074A>C
(GLA)
|
|
|
ENST00000479445.2:n.1536A>C
(GLA)
|
|
|
ENST00000480513.6:c.*230A>C
(GLA)
|
ENSP00000497055.1:n.*230A>C
|
|
ENST00000486121.6:c.967A>C
(GLA)
|
|
|
ENST00000649178.1:c.1045A>C
(GLA)
|
ENSP00000498186.1:p.Lys349Gln
|
|
ENST00000674127.1:c.1022A>C
(GLA)
|
ENSP00000501044.1:n.1022A>C
|
|
ENST00000674142.1:n.1226A>C
(GLA)
|
|
|
ENST00000674634.2:c.922A>C
(GLA)
|
ENSP00000502629.2:p.Lys308Gln
|
|
ENST00000675592.1:c.801+338A>C
(GLA)
|
ENSP00000502239.1:n.801+338A>C
|
|
ENST00000675799.1:c.*447A>C
(GLA)
|
ENSP00000502661.1:n.*447A>C
|
|
ENST00000675968.1:n.3793A>C
(GLA)
|
|
|
ENST00000676156.1:c.886A>C
(GLA)
|
ENSP00000501730.1:p.Lys296Gln
|
|
ENST00000676372.1:c.988A>C
(GLA)
|
ENSP00000502805.1:n.988A>C
|
|
ENST00000218516.3:c.922A>C
(GLA)
|
ENSP00000218516.3:p.Lys308Gln
|
|
ENST00000409170.3:c.300+2990T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2990T>G
|
|
ENST00000409338.5:c.177+6625T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6625T>G
|
|
ENST00000466414.1:n.248A>C
(GLA)
|
|
|
ENST00000493905.6:c.*310A>C
(GLA)
|
ENSP00000476935.1:n.*310A>C
|
|
NM_000169.2:c.922A>C , LRG_672t1:c.922A>C
(GLA)
|
NP_000160.1:p.Lys308Gln
|
|
NM_001199973.1:c.408+2990T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2990T>G
|
|
NM_001199974.1:c.285+6625T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6625T>G
|
|
XR_938397.1:n.1007A>C
(GLA)
|
|
|
XR_938397.2:n.1028A>C
(GLA)
|
|
|
NM_001199973.2:c.300+2990T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2990T>G
|
|
NM_001199974.2:c.177+6625T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6625T>G
|
|
NM_000169.3:c.922A>C
(GLA)
MANE Select
|
NP_000160.1:p.Lys308Gln
|
|
NR_164783.1:n.1001A>C
(GLA)
|
|
|