Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116655150C>A , CM000673.2:g.116655150C>A | GRCh38 |
| NC_000011.9:g.116525867C>A , CM000673.1:g.116525867C>A | GRCh37 |
| NC_000011.8:g.116031077C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_135069.1:n.272+2097C>A | |
| XR_246484.2:n.272+2097C>A | |
| XR_948058.1:n.371C>A |