Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5226621C>T;5227002T>A] , CM000673.2:g.[5226621C>T;5227002T>A] | GRCh38 |
| NC_000011.9:g.[5247851C>T;5248232T>A] , CM000673.1:g.[5247851C>T;5248232T>A] | GRCh37 |
| NC_000011.8:g.[5204427C>T;5204808T>A] | NCBI36 |
| NG_000007.3:g.[70614A>T;70995G>A] | |
| NG_059281.1:g.[5070A>T;5451G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[20A>T;271G>A] | ENSP00000494175.1:p.[Glu7Val;Glu91Lys] | |
| ENST00000335295.4:c.[20A>T;271G>A] MANE Select | ENSP00000333994.3:p.[Glu7Val;Glu91Lys] | |
| ENST00000380315.2:c.[20A>T;271G>A] | ||
| ENST00000485743.1:n.[71A>T;322G>A] | ||
| ENST00000633227.1:c.[20A>T;*87G>A] | ENSP00000488004.1:[p.Glu7Val;n.*87G>A] | |
| NM_000518.4:c.[20A>T;271G>A] | NP_000509.1:p.[Glu7Val;Glu91Lys] | |
| NM_000518.5:c.[20A>T;271G>A] MANE Select | NP_000509.1:p.[Glu7Val;Glu91Lys] |