HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225692T= , CM000673.2:g.5225692T= | GRCh38 |
NC_000011.9:g.5246922T= , CM000673.1:g.5246922T= | GRCh37 |
NC_000011.8:g.5203498T= | NCBI36 |
NG_000007.3:g.71924A= | |
NG_059281.1:g.6380A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.350A= | ENSP00000494175.1:p.His117= | |
ENST00000335295.4:c.350A= MANE Select | ENSP00000333994.3:p.His117= | |
ENST00000475226.1:n.282A= | ||
ENST00000633227.1:c.*166A= | ENSP00000488004.1:n.*166A= | |
NM_000518.4:c.350A= | NP_000509.1:p.His117= | |
NM_000518.5:c.350A= MANE Select | NP_000509.1:p.His117= |