Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586781G= , CM000679.2:g.41586781G= | GRCh38 |
| NC_000017.10:g.39743033G= , CM000679.1:g.39743033G= | GRCh37 |
| NC_000017.9:g.36996559G= | NCBI36 |
| NG_008624.1:g.5115C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.54C= MANE Select | NP_000517.3:p.Cys18= |
| ENST00000167586.7:c.54C= MANE Select | ENSP00000167586.6:p.Cys18= |
| NM_000526.4:c.54C= | NP_000517.2:p.Cys18= |
| ENST00000167586.6:c.54C= | ENSP00000167586.6:p.Cys18= |