HGVS | Genome Assembly |
---|---|
NC_000003.12:g.129530887C>G , CM000665.2:g.129530887C>G | GRCh38 |
NC_000003.11:g.129249730C>G , CM000665.1:g.129249730C>G | GRCh37 |
NC_000003.10:g.130732420C>G | NCBI36 |
NG_009115.1:g.7249C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296271.4:c.373C>G MANE Select | ENSP00000296271.3:p.Leu125Val | |
ENST00000296271.3:c.373C>G | ENSP00000296271.3:p.Leu125Val | |
NM_000539.3:c.373C>G MANE Select | NP_000530.1:p.Leu125Val |