Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797651G>C , CM000678.2:g.8797651G>C | GRCh38 |
| NC_000016.9:g.8891508G>C , CM000678.1:g.8891508G>C | GRCh37 |
| NC_000016.8:g.8799009G>C | NCBI36 |
| NG_009209.1:g.4839G>C | |
| NG_033146.1:g.4998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566983.5:c.-15-4148G>C | ENSP00000457956.1:n.-15-4148G>C |