Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.35566382A>C , CM000677.2:g.35566382A>C | GRCh38 |
| NC_000015.9:g.35858583A>C , CM000677.1:g.35858583A>C | GRCh37 |
| NC_000015.8:g.33645875A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038251.1:n.279+19909A>C |