Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.153632374A>G , CM000665.2:g.153632374A>G | GRCh38 |
| NC_000003.11:g.153350163A>G , CM000665.1:g.153350163A>G | GRCh37 |
| NC_000003.10:g.154832853A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924593.1:n.363-27629T>C | ||
| XR_924594.1:n.60+25696T>C | ||
| NR_146713.1:n.161-27629T>C |