Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27800806T= , CM000679.2:g.27800806T= | GRCh38 |
| NC_000017.10:g.26127832T= , CM000679.1:g.26127832T= | GRCh37 |
| NC_000017.9:g.23151959T= | NCBI36 |
| NG_011470.1:g.4724A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000582441.1:c.439-1924A= | ENSP00000462879.1:n.439-1924A= |
| XM_011524859.1:c.-73-1924A= | XP_011523161.1:n.-73-1924A= |