Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145544941T>C , CM000667.2:g.145544941T>C | GRCh38 |
| NC_000005.9:g.144924504T>C , CM000667.1:g.144924504T>C | GRCh37 |
| NC_000005.8:g.144904697T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000510259.5:n.71-71626A>G | |
| XR_944308.1:n.663-163223A>G |