Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111398907C>A , CM000674.2:g.111398907C>A | GRCh38 |
| NC_000012.11:g.111836711C>A , CM000674.1:g.111836711C>A | GRCh37 |
| NC_000012.10:g.110321094C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945342.1:n.44+2034C>A |