Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96412453A>C , CM000668.2:g.96412453A>C | GRCh38 |
| NC_000006.11:g.96860329A>C , CM000668.1:g.96860329A>C | GRCh37 |
| NC_000006.10:g.96967050A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956363.1:n.9203-42973T>G |