HGVS | Genome Assembly |
---|---|
NC_000011.10:g.[5226597C>T;5226794A>T] , CM000673.2:g.[5226597C>T;5226794A>T] | GRCh38 |
NC_000011.9:g.[5247827C>T;5248024A>T] , CM000673.1:g.[5247827C>T;5248024A>T] | GRCh37 |
NC_000011.8:g.[5204403C>T;5204600A>T] | NCBI36 |
NG_000007.3:g.[70822T>A;71019G>A] | |
NG_059281.1:g.[5278T>A;5475G>A] |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.[98T>A;295G>A] | ENSP00000494175.1:p.[Leu33Gln;Val99Met] | |
ENST00000335295.4:c.[98T>A;295G>A] MANE Select | ENSP00000333994.3:p.[Leu33Gln;Val99Met] | |
ENST00000475226.1:n.[30T>A;227G>A] | ||
ENST00000485743.1:n.[149T>A;346G>A] | ||
ENST00000633227.1:c.[82T>A;*111G>A] | ENSP00000488004.1:[p.Trp28Arg;n.*111G>A] | |
NM_000518.4:c.[98T>A;295G>A] | NP_000509.1:p.[Leu33Gln;Val99Met] | |
NM_000518.5:c.[98T>A;295G>A] MANE Select | NP_000509.1:p.[Leu33Gln;Val99Met] |