Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122662076G>C , CM000665.2:g.122662076G>C | GRCh38 |
| NC_000003.11:g.122380923G>C , CM000665.1:g.122380923G>C | GRCh37 |
| NC_000003.10:g.123863613G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000464704.1:n.1464G>C |