Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176669C>G , CM000678.2:g.176669C>G | GRCh38 |
| NC_000016.9:g.226668C>G , CM000678.1:g.226668C>G | GRCh37 |
| NC_000016.8:g.166668C>G | NCBI36 |
| NG_000006.1:g.37532C>G | |
| NG_059186.1:g.5019C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000558.4:c.-48C>G | NP_000549.1:n.-48C>G |