Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.33005826G>A , CM000672.2:g.33005826G>A | GRCh38 |
| NC_000010.10:g.33294754G>A , CM000672.1:g.33294754G>A | GRCh37 |
| NC_000010.9:g.33334760G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_242755.2:n.220+20069G>A | ||
| XR_001747416.1:n.2739+20069G>A |