Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.12428870G>A , CM000664.2:g.12428870G>A | GRCh38 |
| NC_000002.11:g.12568996G>A , CM000664.1:g.12568996G>A | GRCh37 |
| NC_000002.10:g.12486447G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110196.1:n.424+120086G>A |