Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168665T>A , CM000673.2:g.118168665T>A | GRCh38 |
| NC_000011.9:g.118039380T>A , CM000673.1:g.118039380T>A | GRCh37 |
| NC_000011.8:g.117544590T>A | NCBI36 |
| NG_042217.1:g.12958A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.157A>T MANE Select | ENSP00000278947.5:p.Asn53Tyr | |
| ENST00000658882.1:c.261A>T | ENSP00000499572.1:p.Ser87= | |
| ENST00000665446.1:n.393A>T | ||
| ENST00000669850.1:n.399A>T | ||
| ENST00000278947.5:c.157A>T | ENSP00000278947.5:p.Asn53Tyr | |
| NM_004588.4:c.157A>T | NP_004579.1:p.Asn53Tyr | |
| NM_004588.5:c.157A>T MANE Select | NP_004579.1:p.Asn53Tyr |