Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30821870G>C , CM000668.2:g.30821870G>C | GRCh38 |
| NC_000006.11:g.30789647G>C , CM000668.1:g.30789647G>C | GRCh37 |
| NC_000006.10:g.30897626G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130726.1:n.146-7098C>G |