HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226636A>T , CM000673.2:g.5226636A>T | GRCh38 |
NC_000011.9:g.5247866A>T , CM000673.1:g.5247866A>T | GRCh37 |
NC_000011.8:g.5204442A>T | NCBI36 |
NG_000007.3:g.70980T>A | |
NG_059281.1:g.5436T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.256T>A | ENSP00000494175.1:p.Phe86Ile | |
ENST00000335295.4:c.256T>A MANE Select | ENSP00000333994.3:p.Phe86Ile | |
ENST00000380315.2:c.256T>A | ENSP00000369671.2:p.Phe86Ile | |
ENST00000475226.1:n.188T>A | ||
ENST00000485743.1:n.307T>A | ||
ENST00000633227.1:c.*72T>A | ENSP00000488004.1:n.*72T>A | |
NM_000518.4:c.256T>A | NP_000509.1:p.Phe86Ile | |
NM_000518.5:c.256T>A MANE Select | NP_000509.1:p.Phe86Ile |