Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46016633A>C , CM000682.2:g.46016633A>C | GRCh38 |
| NC_000020.10:g.44645272A>C , CM000682.1:g.44645272A>C | GRCh37 |
| NC_000020.9:g.44078679A>C | NCBI36 |
| NG_011468.1:g.12726A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147699.1:n.669-1845T>G |