HGVS | Genome Assembly |
---|---|
NC_000014.9:g.21634335G>A , CM000676.2:g.21634335G>A | GRCh38 |
NC_000014.8:g.22102491G>A , CM000676.1:g.22102491G>A | GRCh37 |
NC_000014.7:g.21172331G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000542433.1:c.508C>T MANE Select | ENSP00000445383.1:p.Arg170Cys | |
NM_001005466.2:c.508C>T MANE Select | NP_001005466.2:p.Arg170Cys |