HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528902C>A , CM000665.2:g.129528902C>A | GRCh38 |
NC_000003.11:g.129247745C>A , CM000665.1:g.129247745C>A | GRCh37 |
NC_000003.10:g.130730435C>A | NCBI36 |
NG_009115.1:g.5264C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.169C>A MANE Select | ENSP00000296271.3:p.Leu57Ile | |
ENST00000296271.3:c.169C>A | ENSP00000296271.3:p.Leu57Ile | |
NM_000539.3:c.169C>A MANE Select | NP_000530.1:p.Leu57Ile |