Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12196980C= , CM000668.2:g.12196980C= | GRCh38 |
| NC_000006.11:g.12197213C= , CM000668.1:g.12197213C= | GRCh37 |
| NC_000006.10:g.12305199C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001743372.1:n.7806-2241C= |