|
NM_000169.3:c.924A>T
(GLA)
MANE Select
|
NP_000160.1:p.Lys308Asn
|
|
ENST00000218516.4:c.924A>T
(GLA)
MANE Select
|
ENSP00000218516.4:p.Lys308Asn
|
|
NM_000169.2:c.924A>T , LRG_672t1:c.924A>T
(GLA)
|
NP_000160.1:p.Lys308Asn
|
|
NM_001199973.1:c.408+2988T>A
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2988T>A
|
|
NM_001199973.2:c.300+2988T>A
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2988T>A
|
|
NM_001199974.1:c.285+6623T>A
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6623T>A
|
|
NM_001199974.2:c.177+6623T>A
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6623T>A
|
|
NR_164783.1:n.1003A>T
(GLA)
|
|
|
ENST00000218516.3:c.924A>T
(GLA)
|
ENSP00000218516.3:p.Lys308Asn
|
|
ENST00000409170.3:c.300+2988T>A
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2988T>A
|
|
ENST00000409338.5:c.177+6623T>A
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6623T>A
|
|
ENST00000466414.1:n.250A>T
(GLA)
|
|
|
ENST00000466414.2:n.1060A>T
(GLA)
|
|
|
ENST00000468823.2:n.2076A>T
(GLA)
|
|
|
ENST00000479445.2:n.1538A>T
(GLA)
|
|
|
ENST00000480513.6:c.*232A>T
(GLA)
|
ENSP00000497055.1:n.*232A>T
|
|
ENST00000486121.6:c.969A>T
(GLA)
|
|
|
ENST00000486121.7:c.*370A>T
(GLA)
|
ENSP00000501124.2:n.*370A>T
|
|
ENST00000493905.6:c.*312A>T
(GLA)
|
ENSP00000476935.1:n.*312A>T
|
|
ENST00000649178.1:c.1047A>T
(GLA)
|
ENSP00000498186.1:p.Lys349Asn
|
|
ENST00000674127.1:c.1024A>T
(GLA)
|
ENSP00000501044.1:n.1024A>T
|
|
ENST00000674127.2:c.*427A>T
(GLA)
|
ENSP00000501044.2:n.*427A>T
|
|
ENST00000674142.1:n.1228A>T
(GLA)
|
|
|
ENST00000674634.2:c.924A>T
(GLA)
|
ENSP00000502629.2:p.Lys308Asn
|
|
ENST00000675592.1:c.801+340A>T
(GLA)
|
ENSP00000502239.1:n.801+340A>T
|
|
ENST00000675799.1:c.*449A>T
(GLA)
|
ENSP00000502661.1:n.*449A>T
|
|
ENST00000675968.1:n.3795A>T
(GLA)
|
|
|
ENST00000676156.1:c.888A>T
(GLA)
|
ENSP00000501730.1:p.Lys296Asn
|
|
ENST00000676372.1:c.990A>T
(GLA)
|
ENSP00000502805.1:n.990A>T
|
|
ENST00000710365.1:c.999A>T
(GLA)
|
ENSP00000518234.1:p.Lys333Asn
|
|
XR_938397.1:n.1009A>T
(GLA)
|
|
|
XR_938397.2:n.1030A>T
(GLA)
|
|
