HGVS | Genome Assembly |
---|---|
NC_000015.10:g.84839656C>A , CM000677.2:g.84839656C>A | GRCh38 |
NC_000015.9:g.85382887C>A , CM000677.1:g.85382887C>A | GRCh37 |
NC_000015.8:g.83183891C>A | NCBI36 |
NG_054748.1:g.28026C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258888.6:c.423-46C>A MANE Select | ENSP00000258888.6:n.423-46C>A | |
ENST00000258888.5:c.1029-46C>A | ENSP00000258888.5:n.1029-46C>A | |
NM_020778.4:c.1029-46C>A | NP_065829.3:n.1029-46C>A | |
NM_020778.5:c.423-46C>A MANE Select | NP_065829.4:n.423-46C>A |