HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226619C>T , CM000673.2:g.5226619C>T | GRCh38 |
NC_000011.9:g.5247849C>T , CM000673.1:g.5247849C>T | GRCh37 |
NC_000011.8:g.5204425C>T | NCBI36 |
NG_000007.3:g.70997G>A | |
NG_059281.1:g.5453G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.273G>A | ENSP00000494175.1:p.Glu91= | |
ENST00000335295.4:c.273G>A MANE Select | ENSP00000333994.3:p.Glu91= | |
ENST00000475226.1:n.205G>A | ||
ENST00000485743.1:n.324G>A | ||
ENST00000633227.1:c.*89G>A | ENSP00000488004.1:n.*89G>A | |
NM_000518.4:c.273G>A | NP_000509.1:p.Glu91= | |
NM_000518.5:c.273G>A MANE Select | NP_000509.1:p.Glu91= |