ENST00000486121.7:c.*192A>C
(GLA)
|
ENSP00000501124.2:n.*192A>C
|
|
ENST00000674127.2:c.*249A>C
(GLA)
|
ENSP00000501044.2:n.*249A>C
|
|
ENST00000710365.1:c.821A>C
(GLA)
|
ENSP00000518234.1:p.Asn274Thr
|
|
ENST00000218516.4:c.746A>C
(GLA)
MANE Select
|
ENSP00000218516.4:p.Asn249Thr
|
|
ENST00000466414.2:n.665A>C
(GLA)
|
|
|
ENST00000468823.2:n.1681A>C
(GLA)
|
|
|
ENST00000479445.2:n.1143A>C
(GLA)
|
|
|
ENST00000480513.6:c.*54A>C
(GLA)
|
ENSP00000497055.1:n.*54A>C
|
|
ENST00000486121.6:c.791A>C
(GLA)
|
|
|
ENST00000649178.1:c.869A>C
(GLA)
|
ENSP00000498186.1:p.Asn290Thr
|
|
ENST00000674127.1:c.846A>C
(GLA)
|
ENSP00000501044.1:n.846A>C
|
|
ENST00000674142.1:n.833A>C
(GLA)
|
|
|
ENST00000674634.2:c.746A>C
(GLA)
|
ENSP00000502629.2:p.Asn249Thr
|
|
ENST00000675592.1:c.746A>C
(GLA)
|
ENSP00000502239.1:p.Asn249Thr
|
|
ENST00000675799.1:c.*54A>C
(GLA)
|
ENSP00000502661.1:n.*54A>C
|
|
ENST00000675968.1:n.3400A>C
(GLA)
|
|
|
ENST00000676156.1:c.710A>C
(GLA)
|
ENSP00000501730.1:p.Asn237Thr
|
|
ENST00000676372.1:c.746A>C
(GLA)
|
ENSP00000502805.1:p.Asn249Thr
|
|
ENST00000218516.3:c.746A>C
(GLA)
|
ENSP00000218516.3:p.Asn249Thr
|
|
ENST00000409170.3:c.300+3383T>G
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3383T>G
|
|
ENST00000409338.5:c.177+7018T>G
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+7018T>G
|
|
ENST00000468823.1:n.295A>C
(GLA)
|
|
|
ENST00000480513.5:n.584A>C
(GLA)
|
|
|
ENST00000493905.6:c.*134A>C
(GLA)
|
ENSP00000476935.1:n.*134A>C
|
|
NM_000169.2:c.746A>C , LRG_672t1:c.746A>C
(GLA)
|
NP_000160.1:p.Asn249Thr
|
|
NM_001199973.1:c.408+3383T>G
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3383T>G
|
|
NM_001199974.1:c.285+7018T>G
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+7018T>G
|
|
XR_938397.1:n.831A>C
(GLA)
|
|
|
XR_938397.2:n.852A>C
(GLA)
|
|
|
NM_001199973.2:c.300+3383T>G
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3383T>G
|
|
NM_001199974.2:c.177+7018T>G
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+7018T>G
|
|
NM_000169.3:c.746A>C
(GLA)
MANE Select
|
NP_000160.1:p.Asn249Thr
|
|
NR_164783.1:n.825A>C
(GLA)
|
|
|