Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11577957G>A , CM000670.2:g.11577957G>A | GRCh38 |
| NC_000008.10:g.11435466G>A , CM000670.1:g.11435466G>A | GRCh37 |
| NC_000008.9:g.11472875G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040035.1:n.784-413G>A |