Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181397142A>G , CM000664.2:g.181397142A>G | GRCh38 |
| NC_000002.11:g.182261869A>G , CM000664.1:g.182261869A>G | GRCh37 |
| NC_000002.10:g.181970114A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130784.1:n.591-1237A>G |