HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840233G>A , CM000677.2:g.84840233G>A | GRCh38 |
NC_000015.9:g.85383464G>A , CM000677.1:g.85383464G>A | GRCh37 |
NC_000015.8:g.83184468G>A | NCBI36 |
NG_054748.1:g.28603G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.954G>A MANE Select | ENSP00000258888.6:p.Lys318= | |
ENST00000258888.5:c.1560G>A | ENSP00000258888.5:p.Lys520= | |
NM_020778.4:c.1560G>A | NP_065829.3:p.Lys520= | |
NM_020778.5:c.954G>A MANE Select | NP_065829.4:p.Lys318= |