Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10960929C= , CM000681.2:g.10960929C= | GRCh38 |
| NC_000019.9:g.11071605C= , CM000681.1:g.11071605C= | GRCh37 |
| NC_000019.8:g.10932605C= | NCBI36 |
| NG_011556.2:g.5008C= | |
| NG_011556.3:g.4998C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001128844.1:c.-353C= | NP_001122316.1:n.-353C= | |
| NM_003072.3:c.-277C= | NP_003063.2:n.-277C= |