Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20472878A= , CM000686.2:g.20472878A= | GRCh38 |
| NC_000024.9:g.22634764A= , CM000686.1:g.22634764A= | GRCh37 |
| NC_000024.8:g.21044152A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001542.1:n.1064-2897T= |