Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128529873G>A , CM000670.2:g.128529873G>A | GRCh38 |
| NC_000008.10:g.129542119G>A , CM000670.1:g.129542119G>A | GRCh37 |
| NC_000008.9:g.129611301G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+31197C>T |