Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27752003C>T , CM000677.2:g.27752003C>T | GRCh38 |
| NC_000015.9:g.27997149C>T , CM000677.1:g.27997149C>T | GRCh37 |
| NC_000015.8:g.25670744C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017022258.1:c.2457-32675G>A | XP_016877747.1:n.2457-32675G>A | |
| XM_017022264.1:c.2292-32675G>A | XP_016877753.1:n.2292-32675G>A |