Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7968245G>T , CM000669.2:g.7968245G>T | GRCh38 |
| NC_000007.13:g.8007876G>T , CM000669.1:g.8007876G>T | GRCh37 |
| NC_000007.12:g.7974401G>T | NCBI36 |
| NG_032073.1:g.4503G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110018.1:n.209+299C>A |