Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101143195C>G , CM000673.2:g.101143195C>G | GRCh38 |
| NC_000011.9:g.101013926C>G , CM000673.1:g.101013926C>G | GRCh37 |
| NC_000011.8:g.100519136C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_073144.1:n.1022-4948C>G |