Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6821801G>A , CM000667.2:g.6821801G>A | GRCh38 |
| NC_000005.9:g.6821914G>A , CM000667.1:g.6821914G>A | GRCh37 |
| NC_000005.8:g.6874914G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_146281.1:n.467-4842G>A |