Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19503553A>C , CM000686.2:g.19503553A>C | GRCh38 |
| NC_000024.9:g.21665439A>C , CM000686.1:g.21665439A>C | GRCh37 |
| NC_000024.8:g.20124827A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000650676.1:n.112-23259T>G |