Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49925303A>G , CM000674.2:g.49925303A>G | GRCh38 |
| NC_000012.11:g.50319086A>G , CM000674.1:g.50319086A>G | GRCh37 |
| NC_000012.10:g.48605353A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110048.1:n.2813A>G |