HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528877C= , CM000665.2:g.129528877C= | GRCh38 |
NC_000003.11:g.129247720C= , CM000665.1:g.129247720C= | GRCh37 |
NC_000003.10:g.130730410C= | NCBI36 |
NG_009115.1:g.5239C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.144C= MANE Select | ENSP00000296271.3:p.Ile48= | |
ENST00000296271.3:c.144C= | ENSP00000296271.3:p.Ile48= | |
NM_000539.3:c.144C= MANE Select | NP_000530.1:p.Ile48= |