HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50911017T>A , CM000685.2:g.50911017T>A | GRCh38 |
NC_000023.10:g.50654017T>A , CM000685.1:g.50654017T>A | GRCh37 |
NC_000023.9:g.50670757T>A | NCBI36 |
NG_012894.1:g.5234T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.234T>A MANE Select | ENSP00000252677.3:p.Ala78= | |
ENST00000252677.3:c.234T>A | ENSP00000252677.3:p.Ala78= | |
NM_005448.2:c.234T>A MANE Select | NP_005439.2:p.Ala78= |