Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52552329G= , CM000678.2:g.52552329G= | GRCh38 |
| NC_000016.9:g.52586241G= , CM000678.1:g.52586241G= | GRCh37 |
| NC_000016.8:g.51143742G= | NCBI36 |
| NG_012623.1:g.474C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_033920.1:n.759C= |