Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24482852G>C , CM000680.2:g.24482852G>C | GRCh38 |
| NC_000018.9:g.22062816G>C , CM000680.1:g.22062816G>C | GRCh37 |
| NC_000018.8:g.20316814G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011526133.1:c.358-3818G>C | XP_011524435.1:n.358-3818G>C |