Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176675C= , CM000678.2:g.176675C= | GRCh38 |
| NC_000016.9:g.226674C= , CM000678.1:g.226674C= | GRCh37 |
| NC_000016.8:g.166674C= | NCBI36 |
| NG_000006.1:g.37538C= | |
| NG_059186.1:g.5025C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000558.4:c.-42C= | NP_000549.1:n.-42C= |