HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7502627C= , CM000679.2:g.7502627C= | GRCh38 |
NC_000017.10:g.7405946C= , CM000679.1:g.7405946C= | GRCh37 |
NC_000017.9:g.7346670C= | NCBI36 |
NG_027747.1:g.23249C= | |
NG_027747.2:g.23249C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000617998.6:n.3081C= | ||
ENST00000674977.2:c.2682C= | ENSP00000502190.2:p.Asp894= | |
ENST00000576114.1:n.148C= | ||
ENST00000617998.4:c.2682C= | ENSP00000480158.1:p.Asp894= | |
ENST00000621442.4:c.2682C= | ENSP00000483957.1:p.Asp894= | |
NM_000937.4:c.2682C= | NP_000928.1:p.Asp894= | |
NM_000937.5:c.2682C= MANE Select | NP_000928.1:p.Asp894= |