HGVS | Genome Assembly |
---|---|
NC_000017.11:g.75516242C>A , CM000679.2:g.75516242C>A | GRCh38 |
NC_000017.10:g.73512323C>A , CM000679.1:g.73512323C>A | GRCh37 |
NC_000017.9:g.71023918C>A | NCBI36 |
NG_013041.1:g.4715C>A | |
NG_033152.1:g.4342G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434205.8:c.-227C>A | ENSP00000406559.4:n.-227C>A | |
ENST00000679370.1:n.299C>A | ||
ENST00000434205.7:c.-227C>A | ENSP00000406559.3:n.-227C>A | |
XM_006721821.2:c.-392C>A | XP_006721884.1:n.-392C>A |