Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148217741T>C , CM000665.2:g.148217741T>C | GRCh38 |
| NC_000003.11:g.147935528T>C , CM000665.1:g.147935528T>C | GRCh37 |
| NC_000003.10:g.149418218T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924565.1:n.86+2769A>G |