HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81578001A>C , CM000665.2:g.81578001A>C | GRCh38 |
NC_000003.11:g.81627152A>C , CM000665.1:g.81627152A>C | GRCh37 |
NC_000003.10:g.81709842A>C | NCBI36 |
NG_011810.1:g.188800T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000429644.7:c.1542T>G MANE Select | ENSP00000410833.2:p.Asp514Glu | |
ENST00000429644.6:c.1542T>G | ENSP00000410833.2:p.Asp514Glu | |
ENST00000489715.1:c.1419T>G | ENSP00000419638.1:p.Asp473Glu | |
NM_000158.3:c.1542T>G | NP_000149.3:p.Asp514Glu | |
NM_000158.4:c.1542T>G MANE Select | NP_000149.4:p.Asp514Glu |