Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56447926T>G , CM000670.2:g.56447926T>G | GRCh38 |
| NC_000008.10:g.57360485T>G , CM000670.1:g.57360485T>G | GRCh37 |
| NC_000008.9:g.57523039T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_125813.1:n.694+1426T>G |