Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46108390A>T , CM000684.2:g.46108390A>T | GRCh38 |
| NC_000022.10:g.46504270A>T , CM000684.1:g.46504270A>T | GRCh37 |
| NC_000022.9:g.44882934A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027033.2:n.373-877A>T | ||
| NR_110479.1:n.315-877A>T |