HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151841T>G , CM000681.2:g.55151841T>G | GRCh38 |
NC_000019.9:g.55663209T>G , CM000681.1:g.55663209T>G | GRCh37 |
NC_000019.8:g.60355021T>G | NCBI36 |
NG_007866.2:g.10892A>C , LRG_432:g.10892A>C | |
NG_011829.2:g.2398A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.626A>C MANE Select | ENSP00000341838.5:p.Glu209Ala | |
ENST00000665070.1:c.659A>C | ENSP00000499482.1:p.Glu220Ala | |
ENST00000344887.9:c.626A>C | ENSP00000341838.5:p.Glu209Ala | |
ENST00000585806.5:n.625A>C | ||
ENST00000588882.1:c.551A>C | ENSP00000466729.1:p.Glu184Ala | |
ENST00000589864.1:n.454A>C | ||
NM_000363.4:c.626A>C , LRG_432t1:c.626A>C | NP_000354.4:p.Glu209Ala | |
NM_000363.5:c.626A>C MANE Select | NP_000354.4:p.Glu209Ala |