Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.90008255C>T , CM000669.2:g.90008255C>T | GRCh38 |
| NC_000007.13:g.89637569C>T , CM000669.1:g.89637569C>T | GRCh37 |
| NC_000007.12:g.89475505C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110029.2:n.425-125700G>A |