Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52552450G>A , CM000678.2:g.52552450G>A | GRCh38 |
| NC_000016.9:g.52586362G>A , CM000678.1:g.52586362G>A | GRCh37 |
| NC_000016.8:g.51143863G>A | NCBI36 |
| NG_012623.1:g.353C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_033920.1:n.654-16C>T |