Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99445385A>G , CM000672.2:g.99445385A>G | GRCh38 |
| NC_000010.10:g.101205142A>G , CM000672.1:g.101205142A>G | GRCh37 |
| NC_000010.9:g.101195132A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946240.1:n.717-6400A>G |