Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069481C= , CM000679.2:g.14069481C= | GRCh38 |
| NC_000017.10:g.13972798C= , CM000679.1:g.13972798C= | GRCh37 |
| NC_000017.9:g.13913523C= | NCBI36 |
| NG_008034.1:g.5080C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001303.3:c.-125C= | NP_001294.2:n.-125C= |