Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5226716G>C;5227002T>A] , CM000673.2:g.[5226716G>C;5227002T>A] | GRCh38 |
| NC_000011.9:g.[5247946G>C;5248232T>A] , CM000673.1:g.[5247946G>C;5248232T>A] | GRCh37 |
| NC_000011.8:g.[5204522G>C;5204808T>A] | NCBI36 |
| NG_000007.3:g.[70614A>T;70900C>G] | |
| NG_059281.1:g.[5070A>T;5356C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[20A>T;176C>G] | ENSP00000494175.1:p.[Glu7Val;Pro59Arg] | |
| ENST00000335295.4:c.[20A>T;176C>G] MANE Select | ENSP00000333994.3:p.[Glu7Val;Pro59Arg] | |
| ENST00000380315.2:c.[20A>T;176C>G] | ENSP00000369671.2:p.[Glu7Val;Pro59Arg] | |
| ENST00000485743.1:n.[71A>T;227C>G] | ||
| ENST00000633227.1:c.[20A>T;160C>G] | ENSP00000488004.1:p.[Glu7Val;Leu54Val] | |
| NM_000518.4:c.[20A>T;176C>G] | NP_000509.1:p.[Glu7Val;Pro59Arg] | |
| NM_000518.5:c.[20A>T;176C>G] MANE Select | NP_000509.1:p.[Glu7Val;Pro59Arg] |