Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65781114G>C , CM000674.2:g.65781114G>C | GRCh38 |
| NC_000012.11:g.66174894G>C , CM000674.1:g.66174894G>C | GRCh37 |
| NC_000012.10:g.64461161G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489520.2:n.133-22083C>G | ||
| NR_026825.2:n.133-22083C>G |