HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225598T= , CM000673.2:g.5225598T= | GRCh38 |
NC_000011.9:g.5246828T= , CM000673.1:g.5246828T= | GRCh37 |
NC_000011.8:g.5203404T= | NCBI36 |
NG_000007.3:g.72018A= | |
NG_059281.1:g.6474A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.444A= | ENSP00000494175.1:p.Ter148= | |
ENST00000335295.4:c.444A= MANE Select | ENSP00000333994.3:p.Ter148= | |
ENST00000633227.1:c.*260A= | ENSP00000488004.1:n.*260A= | |
NM_000518.4:c.444A= | NP_000509.1:p.Ter148= | |
NM_000518.5:c.444A= MANE Select | NP_000509.1:p.Ter148= |