HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225690G= , CM000673.2:g.5225690G= | GRCh38 |
NC_000011.9:g.5246920G= , CM000673.1:g.5246920G= | GRCh37 |
NC_000011.8:g.5203496G= | NCBI36 |
NG_000007.3:g.71926C= | |
NG_059281.1:g.6382C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.352C= | ENSP00000494175.1:p.His118= | |
ENST00000335295.4:c.352C= MANE Select | ENSP00000333994.3:p.His118= | |
ENST00000475226.1:n.284C= | ||
ENST00000633227.1:c.*168C= | ENSP00000488004.1:n.*168C= | |
NM_000518.4:c.352C= | NP_000509.1:p.His118= | |
NM_000518.5:c.352C= MANE Select | NP_000509.1:p.His118= |