Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78667878C= , CM000666.2:g.78667878C= | GRCh38 |
| NC_000004.11:g.79589032C= , CM000666.1:g.79589032C= | GRCh37 |
| NC_000004.10:g.79808056C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_038303.1:n.473+4867C= | ||
| NR_038304.1:n.473+4867C= | ||
| NR_038305.1:n.380-5465C= | ||
| NR_038306.1:n.380-12883C= | ||
| NR_038307.1:n.364+4867C= | ||
| NR_038308.1:n.325+4906C= |