HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84840643G>T , CM000677.2:g.84840643G>T | GRCh38 |
NC_000015.9:g.85383874G>T , CM000677.1:g.85383874G>T | GRCh37 |
NC_000015.8:g.83184878G>T | NCBI36 |
NG_054748.1:g.29013G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.1364G>T MANE Select | ENSP00000258888.6:p.Arg455Ile | |
ENST00000258888.5:c.1970G>T | ENSP00000258888.5:p.Arg657Ile | |
NM_020778.4:c.1970G>T | NP_065829.3:p.Arg657Ile | |
NM_020778.5:c.1364G>T MANE Select | NP_065829.4:p.Arg455Ile |