HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226588C>A , CM000673.2:g.5226588C>A | GRCh38 |
NC_000011.9:g.5247818C>A , CM000673.1:g.5247818C>A | GRCh37 |
NC_000011.8:g.5204394C>A | NCBI36 |
NG_000007.3:g.71028G>T | |
NG_059281.1:g.5484G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.304G>T | ENSP00000494175.1:p.Glu102Ter | |
ENST00000335295.4:c.304G>T MANE Select | ENSP00000333994.3:p.Glu102Ter | |
ENST00000475226.1:n.236G>T | ||
ENST00000485743.1:n.355G>T | ||
ENST00000633227.1:c.*120G>T | ENSP00000488004.1:n.*120G>T | |
NM_000518.4:c.304G>T | NP_000509.1:p.Glu102Ter | |
NM_000518.5:c.304G>T MANE Select | NP_000509.1:p.Glu102Ter |