Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27801555C= , CM000679.2:g.27801555C= | GRCh38 |
| NC_000017.10:g.26128581C= , CM000679.1:g.26128581C= | GRCh37 |
| NC_000017.9:g.23152708C= | NCBI36 |
| NG_011470.1:g.3975G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000582441.1:c.438+2568G= | ENSP00000462879.1:n.438+2568G= |
| XM_011524859.1:c.-74+2568G= | XP_011523161.1:n.-74+2568G= |