Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.79043433A>G , CM000666.2:g.79043433A>G | GRCh38 |
| NC_000004.11:g.79964587A>G , CM000666.1:g.79964587A>G | GRCh37 |
| NC_000004.10:g.80183611A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038342.1:n.183-42663A>G |