|
ENST00000486121.7:c.*522T=
(GLA)
|
ENSP00000501124.2:n.*522T=
|
|
|
ENST00000674127.2:c.*579T=
(GLA)
|
ENSP00000501044.2:n.*579T=
|
|
|
ENST00000710365.1:c.1151T=
(GLA)
|
ENSP00000518234.1:p.Ile384=
|
|
|
ENST00000218516.4:c.1076T=
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ile359=
|
|
|
ENST00000466414.2:n.1212T=
(GLA)
|
|
|
|
ENST00000468823.2:n.2498T=
(GLA)
|
|
|
|
ENST00000479445.2:n.1690T=
(GLA)
|
|
|
|
ENST00000480513.6:c.*384T=
(GLA)
|
ENSP00000497055.1:n.*384T=
|
|
|
ENST00000486121.6:c.1121T=
(GLA)
|
|
|
|
ENST00000649178.1:c.1199T=
(GLA)
|
ENSP00000498186.1:p.Ile400=
|
|
|
ENST00000674127.1:c.1176T=
(GLA)
|
ENSP00000501044.1:n.1176T=
|
|
|
ENST00000674142.1:n.1380T=
(GLA)
|
|
|
|
ENST00000675592.1:c.878T=
(GLA)
|
ENSP00000502239.1:p.Ile293=
|
|
|
ENST00000675799.1:c.*601T=
(GLA)
|
ENSP00000502661.1:n.*601T=
|
|
|
ENST00000675968.1:n.3947T=
(GLA)
|
|
|
|
ENST00000676156.1:c.1040T=
(GLA)
|
ENSP00000501730.1:p.Ile347=
|
|
|
ENST00000676372.1:c.1142T=
(GLA)
|
ENSP00000502805.1:n.1142T=
|
|
|
ENST00000218516.3:c.1076T=
(GLA)
|
ENSP00000218516.3:p.Ile359=
|
|
|
ENST00000409170.3:c.300+2566A=
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2566A=
|
|
|
ENST00000409338.5:c.177+6201A=
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6201A=
|
|
|
ENST00000466414.1:n.402T=
(GLA)
|
|
|
|
ENST00000493905.6:c.*464T=
(GLA)
|
ENSP00000476935.1:n.*464T=
|
|
|
NM_000169.2:c.1076T= , LRG_672t1:c.1076T=
(GLA)
|
NP_000160.1:p.Ile359=
|
|
|
NM_001199973.1:c.408+2566A=
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2566A=
|
|
|
NM_001199974.1:c.285+6201A=
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6201A=
|
|
|
XR_938397.1:n.1161T=
(GLA)
|
|
|
|
XR_938397.2:n.1182T=
(GLA)
|
|
|
|
NM_001199973.2:c.300+2566A=
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2566A=
|
|
|
NM_001199974.2:c.177+6201A=
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6201A=
|
|
|
NM_000169.3:c.1076T=
(GLA)
MANE Select
|
NP_000160.1:p.Ile359=
|
|
|
NR_164783.1:n.1155T=
(GLA)
|
|
|
