Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11578005G>T , CM000670.2:g.11578005G>T | GRCh38 |
| NC_000008.10:g.11435514G>T , CM000670.1:g.11435514G>T | GRCh37 |
| NC_000008.9:g.11472923G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040035.1:n.784-365G>T |