Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.153466867A>C , CM000665.2:g.153466867A>C | GRCh38 |
| NC_000003.11:g.153184656A>C , CM000665.1:g.153184656A>C | GRCh37 |
| NC_000003.10:g.154667346A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924593.1:n.463-80851T>G | ||
| XR_924594.1:n.161-80851T>G | ||
| XR_924595.1:n.172-80851T>G | ||
| NR_146713.1:n.381+67676T>G |