HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47881863G>A , CM000681.2:g.47881863G>A | GRCh38 |
NC_000019.9:g.48385120G>A , CM000681.1:g.48385120G>A | GRCh37 |
NC_000019.8:g.53076932G>A | NCBI36 |
NG_016745.1:g.9535C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222002.4:c.472+221C>T MANE Select | ENSP00000222002.2:n.472+221C>T | |
ENST00000222002.3:c.472+221C>T | ENSP00000222002.2:n.472+221C>T | |
NM_003167.3:c.472+221C>T | NP_003158.2:n.472+221C>T | |
NM_003167.4:c.472+221C>T MANE Select | NP_003158.2:n.472+221C>T |