Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128046110G>C , CM000670.2:g.128046110G>C | GRCh38 |
| NC_000008.10:g.129058356G>C , CM000670.1:g.129058356G>C | GRCh37 |
| NC_000008.9:g.129127538G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003367.3:n.1213-24050G>C |