|
ENST00000486121.7:c.*366C=
(GLA)
|
ENSP00000501124.2:n.*366C=
|
|
|
ENST00000674127.2:c.*423C=
(GLA)
|
ENSP00000501044.2:n.*423C=
|
|
|
ENST00000710365.1:c.995C=
(GLA)
|
ENSP00000518234.1:p.Ala332=
|
|
|
ENST00000218516.4:c.920C=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala307=
|
|
|
ENST00000466414.2:n.1056C=
(GLA)
|
|
|
|
ENST00000468823.2:n.2072C=
(GLA)
|
|
|
|
ENST00000479445.2:n.1534C=
(GLA)
|
|
|
|
ENST00000480513.6:c.*228C=
(GLA)
|
ENSP00000497055.1:n.*228C=
|
|
|
ENST00000486121.6:c.965C=
(GLA)
|
|
|
|
ENST00000649178.1:c.1043C=
(GLA)
|
ENSP00000498186.1:p.Ala348=
|
|
|
ENST00000674127.1:c.1020C=
(GLA)
|
ENSP00000501044.1:n.1020C=
|
|
|
ENST00000674142.1:n.1224C=
(GLA)
|
|
|
|
ENST00000674634.2:c.920C=
(GLA)
|
ENSP00000502629.2:p.Ala307=
|
|
|
ENST00000675592.1:c.801+336C=
(GLA)
|
ENSP00000502239.1:n.801+336C=
|
|
|
ENST00000675799.1:c.*445C=
(GLA)
|
ENSP00000502661.1:n.*445C=
|
|
|
ENST00000675968.1:n.3791C=
(GLA)
|
|
|
|
ENST00000676156.1:c.884C=
(GLA)
|
ENSP00000501730.1:p.Ala295=
|
|
|
ENST00000676372.1:c.986C=
(GLA)
|
ENSP00000502805.1:n.986C=
|
|
|
ENST00000218516.3:c.920C=
(GLA)
|
ENSP00000218516.3:p.Ala307=
|
|
|
ENST00000409170.3:c.300+2992G=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2992G=
|
|
|
ENST00000409338.5:c.177+6627G=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6627G=
|
|
|
ENST00000466414.1:n.246C=
(GLA)
|
|
|
|
ENST00000493905.6:c.*308C=
(GLA)
|
ENSP00000476935.1:n.*308C=
|
|
|
NM_000169.2:c.920C= , LRG_672t1:c.920C=
(GLA)
|
NP_000160.1:p.Ala307=
|
|
|
NM_001199973.1:c.408+2992G=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2992G=
|
|
|
NM_001199974.1:c.285+6627G=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6627G=
|
|
|
XR_938397.1:n.1005C=
(GLA)
|
|
|
|
XR_938397.2:n.1026C=
(GLA)
|
|
|
|
NM_001199973.2:c.300+2992G=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2992G=
|
|
|
NM_001199974.2:c.177+6627G=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6627G=
|
|
|
NM_000169.3:c.920C=
(GLA)
MANE Select
|
NP_000160.1:p.Ala307=
|
|
|
NR_164783.1:n.999C=
(GLA)
|
|
|
