HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129528904C>A , CM000665.2:g.129528904C>A | GRCh38 |
NC_000003.11:g.129247747C>A , CM000665.1:g.129247747C>A | GRCh37 |
NC_000003.10:g.130730437C>A | NCBI36 |
NG_009115.1:g.5266C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296271.4:c.171C>A MANE Select | ENSP00000296271.3:p.Leu57= | |
ENST00000296271.3:c.171C>A | ENSP00000296271.3:p.Leu57= | |
NM_000539.3:c.171C>A MANE Select | NP_000530.1:p.Leu57= |