Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965277C>T , CM000681.2:g.48965277C>T | GRCh38 |
| NC_000019.9:g.49468534C>T , CM000681.1:g.49468534C>T | GRCh37 |
| NC_000019.8:g.54160346C>T | NCBI36 |
| NG_008152.1:g.4969C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_024451447.1:c.280C>T | XP_024307215.1:p.His94Tyr |