Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31096300T>C , CM000678.2:g.31096300T>C | GRCh38 |
| NC_000016.9:g.31107621T>C , CM000678.1:g.31107621T>C | GRCh37 |
| NC_000016.8:g.31015122T>C | NCBI36 |
| NG_011564.1:g.3656A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950848.1:n.16+22A>G |