Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583289C= , CM000679.2:g.41583289C= | GRCh38 |
| NC_000017.10:g.39739541C= , CM000679.1:g.39739541C= | GRCh37 |
| NC_000017.9:g.36993067C= | NCBI36 |
| NG_008624.1:g.8607G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1220G= MANE Select | ENSP00000167586.6:p.Arg407= | |
| ENST00000167586.6:c.1220G= | ENSP00000167586.6:p.Arg407= | |
| ENST00000441550.2:n.167G= | ||
| ENST00000476662.1:n.670G= | ||
| NM_000526.4:c.1220G= | NP_000517.2:p.Arg407= | |
| NM_000526.5:c.1220G= MANE Select | NP_000517.3:p.Arg407= |