HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65240016T>A , CM000674.2:g.65240016T>A | GRCh38 |
NC_000012.11:g.65633796T>A , CM000674.1:g.65633796T>A | GRCh37 |
NC_000012.10:g.63920063T>A | NCBI36 |
NG_016210.1:g.75446T>A | |
NG_016210.2:g.75446T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.2009T>A MANE Select | ENSP00000308369.2:p.Val670Glu | |
ENST00000308330.2:c.2009T>A | ENSP00000308369.2:p.Val670Glu | |
NM_001167614.1:c.2006T>A | NP_001161086.1:p.Val669Glu | |
NM_014319.4:c.2009T>A | NP_055134.2:p.Val670Glu | |
NM_014319.5:c.2009T>A MANE Select | NP_055134.2:p.Val670Glu | |
NM_001167614.2:c.2006T>A | NP_001161086.1:p.Val669Glu |