Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3004569C= , CM000686.2:g.3004569C= | GRCh38 |
| NC_000024.9:g.2872610C= , CM000686.1:g.2872610C= | GRCh37 |
| NC_000024.8:g.2932610C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046502.1:n.222+1352C= |
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.3004569C= , CM000686.2:g.3004569C= | GRCh38 |
| NC_000024.9:g.2872610C= , CM000686.1:g.2872610C= | GRCh37 |
| NC_000024.8:g.2932610C= | NCBI36 |
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046502.1:n.222+1352C= |