Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27804210G>A , CM000679.2:g.27804210G>A | GRCh38 |
| NC_000017.10:g.26131236G>A , CM000679.1:g.26131236G>A | GRCh37 |
| NC_000017.9:g.23155363G>A | NCBI36 |
| NG_011470.1:g.1320C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000582441.1:c.351C>T | ENSP00000462879.1:p.Ser117= | |
| XM_011524859.1:c.-161C>T | XP_011523161.1:n.-161C>T |