HGVS | Genome Assembly |
---|---|
NC_000005.10:g.178988987T>A , CM000667.2:g.178988987T>A | GRCh38 |
NC_000005.9:g.178415988T>A , CM000667.1:g.178415988T>A | GRCh37 |
NC_000005.8:g.178348594T>A | NCBI36 |
NG_008105.1:g.11137A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000517717.3:c.1302A>T MANE Select | ENSP00000430767.1:p.Glu434Asp | |
ENST00000650031.1:c.1302A>T | ENSP00000497110.1:p.Glu434Asp | |
ENST00000231188.9:c.1302A>T | ENSP00000231188.5:p.Glu434Asp | |
ENST00000517717.1:c.1302A>T | ENSP00000430767.1:p.Glu434Asp | |
NM_000843.3:c.1302A>T | NP_000834.2:p.Glu434Asp | |
XR_941310.1:n.1470-760T>A | ||
NM_000843.4:c.1302A>T MANE Select | NP_000834.2:p.Glu434Asp |