Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6348488G>A , CM000672.2:g.6348488G>A | GRCh38 |
| NC_000010.10:g.6390450G>A , CM000672.1:g.6390450G>A | GRCh37 |
| NC_000010.9:g.6430456G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_242715.2:n.1306G>A |