HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965250G>A , CM000681.2:g.48965250G>A | GRCh38 |
NC_000019.9:g.49468507G>A , CM000681.1:g.49468507G>A | GRCh37 |
NC_000019.8:g.54160319G>A | NCBI36 |
NG_008152.1:g.4942G>A |
HGVS | Amino-acid Change | |
---|---|---|
XM_024451447.1:c.253G>A | XP_024307215.1:p.Ala85Thr |