Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11261528C>T , CM000670.2:g.11261528C>T | GRCh38 |
| NC_000008.10:g.11119037C>T , CM000670.1:g.11119037C>T | GRCh37 |
| NC_000008.9:g.11156447C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_170283.1:n.558+6261G>A |