Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27804300G= , CM000679.2:g.27804300G= | GRCh38 |
| NC_000017.10:g.26131326G= , CM000679.1:g.26131326G= | GRCh37 |
| NC_000017.9:g.23155453G= | NCBI36 |
| NG_011470.1:g.1230C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000582441.1:c.261C= | ENSP00000462879.1:p.Cys87= |
| XM_011524859.1:c.-251C= | XP_011523161.1:n.-251C= |