Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46108467C>T , CM000684.2:g.46108467C>T | GRCh38 |
| NC_000022.10:g.46504347C>T , CM000684.1:g.46504347C>T | GRCh37 |
| NC_000022.9:g.44883011C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027033.2:n.373-800C>T | ||
| NR_110479.1:n.315-800C>T |