Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7968283C>G , CM000669.2:g.7968283C>G | GRCh38 |
| NC_000007.13:g.8007914C>G , CM000669.1:g.8007914C>G | GRCh37 |
| NC_000007.12:g.7974439C>G | NCBI36 |
| NG_032073.1:g.4541C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110018.1:n.209+261G>C |