Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.117123981G>C , CM000665.2:g.117123981G>C | GRCh38 |
| NC_000003.11:g.116842828G>C , CM000665.1:g.116842828G>C | GRCh37 |
| NC_000003.10:g.118325518G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474851.1:c.33+15220C>G | ENSP00000418506.1:n.33+15220C>G |