Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.53566951C= , CM000682.2:g.53566951C= | GRCh38 |
| NC_000020.10:g.52183490C= , CM000682.1:g.52183490C= | GRCh37 |
| NC_000020.9:g.51616897C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110051.1:n.556-3321C= |