Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101639133A>C , CM000666.2:g.101639133A>C | GRCh38 |
| NC_000004.11:g.102560290A>C , CM000666.1:g.102560290A>C | GRCh37 |
| NC_000004.10:g.102779313A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000504592.5:c.-255-30270A>C | ENSP00000421443.1:n.-255-30270A>C |