Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158562254T>C , CM000665.2:g.158562254T>C | GRCh38 |
| NC_000003.11:g.158280043T>C , CM000665.1:g.158280043T>C | GRCh37 |
| NC_000003.10:g.159762737T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104147.1:n.994-749A>G |