Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176676C>G , CM000678.2:g.176676C>G | GRCh38 |
| NC_000016.9:g.226675C>G , CM000678.1:g.226675C>G | GRCh37 |
| NC_000016.8:g.166675C>G | NCBI36 |
| NG_000006.1:g.37539C>G | |
| NG_059186.1:g.5026C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000558.4:c.-41C>G | NP_000549.1:n.-41C>G |