Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769677G>A , CM000676.2:g.94769677G>A | GRCh38 |
| NC_000014.8:g.95236014G>A , CM000676.1:g.95236014G>A | GRCh37 |
| NC_000014.7:g.94305767G>A | NCBI36 |
| NG_034111.1:g.5486C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.339C>T MANE Select | NP_776248.1:p.Cys113= |
| ENST00000238558.5:c.339C>T MANE Select | ENSP00000238558.3:p.Cys113= |
| NM_173849.2:c.339C>T | NP_776248.1:p.Cys113= |
| ENST00000238558.4:c.339C>T | ENSP00000238558.3:p.Cys113= |