Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.234706553A>C , CM000664.2:g.234706553A>C | GRCh38 |
| NC_000002.11:g.235615197A>C , CM000664.1:g.235615197A>C | GRCh37 |
| NC_000002.10:g.235279936A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_132376.1:n.201+10805A>C |