Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168673C>A , CM000673.2:g.118168673C>A | GRCh38 |
| NC_000011.9:g.118039388C>A , CM000673.1:g.118039388C>A | GRCh37 |
| NC_000011.8:g.117544598C>A | NCBI36 |
| NG_042217.1:g.12950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.149G>T MANE Select | ENSP00000278947.5:p.Cys50Phe | |
| ENST00000658882.1:c.253G>T | ENSP00000499572.1:p.Ala85Ser | |
| ENST00000665446.1:n.385G>T | ||
| ENST00000669850.1:n.391G>T | ||
| ENST00000278947.5:c.149G>T | ENSP00000278947.5:p.Cys50Phe | |
| NM_004588.4:c.149G>T | NP_004579.1:p.Cys50Phe | |
| NM_004588.5:c.149G>T MANE Select | NP_004579.1:p.Cys50Phe |