HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48560149G>A , CM000674.2:g.48560149G>A | GRCh38 |
NC_000012.11:g.48953932G>A , CM000674.1:g.48953932G>A | GRCh37 |
NC_000012.10:g.47240199G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328207.6:n.268G>A | ||
NM_001396061.1:c.268G>A MANE Select | NP_001382990.1:p.Glu90Lys |