Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649503T>G , CM000670.2:g.2649503T>G | GRCh38 |
| NC_000008.10:g.2507020T>G , CM000670.1:g.2507020T>G | GRCh37 |
| NC_000008.9:g.2494427T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125425.1:n.238+25227A>C |