Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.42225168G>C , CM000673.2:g.42225168G>C | GRCh38 |
| NC_000011.9:g.42246718G>C , CM000673.1:g.42246718G>C | GRCh37 |
| NC_000011.8:g.42203294G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038309.1:n.332+12925C>G |