|
NM_000169.3:c.688G>A
(GLA)
MANE Select
|
NP_000160.1:p.Ala230Thr
|
|
ENST00000218516.4:c.688G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala230Thr
|
|
NM_000169.2:c.688G>A , LRG_672t1:c.688G>A
(GLA)
|
NP_000160.1:p.Ala230Thr
|
|
NM_001199973.1:c.408+3441C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3441C>T
|
|
NM_001199973.2:c.300+3441C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3441C>T
|
|
NM_001199974.1:c.285+7076C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7076C>T
|
|
NM_001199974.2:c.177+7076C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7076C>T
|
|
NR_164783.1:n.767G>A
(GLA)
|
|
|
ENST00000218516.3:c.688G>A
(GLA)
|
ENSP00000218516.3:p.Ala230Thr
|
|
ENST00000409170.3:c.300+3441C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3441C>T
|
|
ENST00000409338.5:c.177+7076C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7076C>T
|
|
ENST00000466414.2:n.607G>A
(GLA)
|
|
|
ENST00000468823.1:n.237G>A
(GLA)
|
|
|
ENST00000468823.2:n.1623G>A
(GLA)
|
|
|
ENST00000479445.2:n.1085G>A
(GLA)
|
|
|
ENST00000480513.5:n.526G>A
(GLA)
|
|
|
ENST00000480513.6:c.596G>A
(GLA)
|
ENSP00000497055.1:p.Cys199Tyr
|
|
ENST00000486121.6:c.733G>A
(GLA)
|
|
|
ENST00000486121.7:c.*134G>A
(GLA)
|
ENSP00000501124.2:n.*134G>A
|
|
ENST00000493905.6:c.*76G>A
(GLA)
|
ENSP00000476935.1:n.*76G>A
|
|
ENST00000649178.1:c.811G>A
(GLA)
|
ENSP00000498186.1:p.Ala271Thr
|
|
ENST00000674127.1:c.788G>A
(GLA)
|
ENSP00000501044.1:n.788G>A
|
|
ENST00000674127.2:c.*191G>A
(GLA)
|
ENSP00000501044.2:n.*191G>A
|
|
ENST00000674142.1:n.775G>A
(GLA)
|
|
|
ENST00000674634.2:c.688G>A
(GLA)
|
ENSP00000502629.2:p.Ala230Thr
|
|
ENST00000675592.1:c.688G>A
(GLA)
|
ENSP00000502239.1:p.Ala230Thr
|
|
ENST00000675799.1:c.596G>A
(GLA)
|
ENSP00000502661.1:p.Cys199Tyr
|
|
ENST00000675968.1:n.3342G>A
(GLA)
|
|
|
ENST00000676156.1:c.652G>A
(GLA)
|
ENSP00000501730.1:p.Ala218Thr
|
|
ENST00000676372.1:c.688G>A
(GLA)
|
ENSP00000502805.1:p.Ala230Thr
|
|
ENST00000710365.1:c.763G>A
(GLA)
|
ENSP00000518234.1:p.Ala255Thr
|
|
XR_938397.1:n.773G>A
(GLA)
|
|
|
XR_938397.2:n.794G>A
(GLA)
|
|
