Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.111333923A>C , CM000665.2:g.111333923A>C | GRCh38 |
| NC_000003.11:g.111052770A>C , CM000665.1:g.111052770A>C | GRCh37 |
| NC_000003.10:g.112535460A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460744.1:c.-325-30590A>C | ENSP00000475194.1:n.-325-30590A>C | |
| XR_924332.1:n.163+27405A>C |