Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44662413C>G , CM000667.2:g.44662413C>G | GRCh38 |
| NC_000005.9:g.44662515C>G , CM000667.1:g.44662515C>G | GRCh37 |
| NC_000005.8:g.44698272C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_427699.2:n.92-3856G>C | |
| XR_925983.1:n.71-3856G>C |