Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49418853C= , CM000684.2:g.49418853C= | GRCh38 |
| NC_000022.10:g.49812502C= , CM000684.1:g.49812502C= | GRCh37 |
| NC_000022.9:g.48198506C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110522.1:n.139-1925G= | |
| NR_110522.2:n.116-1925G= | |
| NR_110523.1:n.476-1925G= | |
| NR_110523.2:n.453-1925G= |