Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43153713A>G , CM000675.2:g.43153713A>G | GRCh38 |
| NC_000013.10:g.43727849A>G , CM000675.1:g.43727849A>G | GRCh37 |
| NC_000013.9:g.42625849A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047013.1:n.120-4920A>G |