Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12256462T>A , CM000663.2:g.12256462T>A | GRCh38 |
| NC_000001.10:g.12316519T>A , CM000663.1:g.12316519T>A | GRCh37 |
| NC_000001.9:g.12239106T>A | NCBI36 |
| NG_056877.1:g.31424T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.799T>A MANE Select | ENSP00000478104.1:p.Cys267Ser | |
| ENST00000489961.1:n.280T>A | ||
| ENST00000613099.4:c.799T>A | ENSP00000482233.1:p.Cys267Ser | |
| ENST00000620676.4:c.799T>A | ENSP00000478104.1:p.Cys267Ser | |
| NM_015378.3:c.799T>A | NP_056193.2:p.Cys267Ser | |
| NM_018156.3:c.799T>A | NP_060626.2:p.Cys267Ser | |
| NM_015378.4:c.799T>A MANE Select | NP_056193.2:p.Cys267Ser | |
| NM_018156.4:c.799T>A | NP_060626.2:p.Cys267Ser |