|
ENST00000486121.7:c.*416T=
(GLA)
|
ENSP00000501124.2:n.*416T=
|
|
|
ENST00000674127.2:c.*473T=
(GLA)
|
ENSP00000501044.2:n.*473T=
|
|
|
ENST00000710365.1:c.1045T=
(GLA)
|
ENSP00000518234.1:p.Leu349=
|
|
|
ENST00000218516.4:c.970T=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Leu324=
|
|
|
ENST00000466414.2:n.1106T=
(GLA)
|
|
|
|
ENST00000468823.2:n.2122T=
(GLA)
|
|
|
|
ENST00000479445.2:n.1584T=
(GLA)
|
|
|
|
ENST00000480513.6:c.*278T=
(GLA)
|
ENSP00000497055.1:n.*278T=
|
|
|
ENST00000486121.6:c.1015T=
(GLA)
|
|
|
|
ENST00000649178.1:c.1093T=
(GLA)
|
ENSP00000498186.1:p.Leu365=
|
|
|
ENST00000674127.1:c.1070T=
(GLA)
|
ENSP00000501044.1:n.1070T=
|
|
|
ENST00000674142.1:n.1274T=
(GLA)
|
|
|
|
ENST00000674634.2:c.970T=
(GLA)
|
ENSP00000502629.2:p.Leu324=
|
|
|
ENST00000675592.1:c.802-300T=
(GLA)
|
ENSP00000502239.1:n.802-300T=
|
|
|
ENST00000675799.1:c.*495T=
(GLA)
|
ENSP00000502661.1:n.*495T=
|
|
|
ENST00000675968.1:n.3841T=
(GLA)
|
|
|
|
ENST00000676156.1:c.934T=
(GLA)
|
ENSP00000501730.1:p.Leu312=
|
|
|
ENST00000676372.1:c.1036T=
(GLA)
|
ENSP00000502805.1:n.1036T=
|
|
|
ENST00000218516.3:c.970T=
(GLA)
|
ENSP00000218516.3:p.Leu324=
|
|
|
ENST00000409170.3:c.300+2942A=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2942A=
|
|
|
ENST00000409338.5:c.177+6577A=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6577A=
|
|
|
ENST00000466414.1:n.296T=
(GLA)
|
|
|
|
ENST00000493905.6:c.*358T=
(GLA)
|
ENSP00000476935.1:n.*358T=
|
|
|
NM_000169.2:c.970T= , LRG_672t1:c.970T=
(GLA)
|
NP_000160.1:p.Leu324=
|
|
|
NM_001199973.1:c.408+2942A=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2942A=
|
|
|
NM_001199974.1:c.285+6577A=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6577A=
|
|
|
XR_938397.1:n.1055T=
(GLA)
|
|
|
|
XR_938397.2:n.1076T=
(GLA)
|
|
|
|
NM_001199973.2:c.300+2942A=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2942A=
|
|
|
NM_001199974.2:c.177+6577A=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6577A=
|
|
|
NM_000169.3:c.970T=
(GLA)
MANE Select
|
NP_000160.1:p.Leu324=
|
|
|
NR_164783.1:n.1049T=
(GLA)
|
|
|
