Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.84458093G>C , CM000675.2:g.84458093G>C | GRCh38 |
| NC_000013.10:g.85032228G>C , CM000675.1:g.85032228G>C | GRCh37 |
| NC_000013.9:g.83930229G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_046871.1:n.139-104271G>C | ||
| XR_942133.1:n.369-46174C>G | ||
| XR_942134.1:n.366-46174C>G |