Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52567188T>A , CM000678.2:g.52567188T>A | GRCh38 |
| NC_000016.9:g.52601100T>A , CM000678.1:g.52601100T>A | GRCh37 |
| NC_000016.8:g.51158601T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033920.1:n.605-4326A>T |