Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219554437T>C , CM000663.2:g.219554437T>C | GRCh38 |
| NC_000001.10:g.219727779T>C , CM000663.1:g.219727779T>C | GRCh37 |
| NC_000001.9:g.217794402T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_135822.1:n.134+2754A>G | |
| XR_922607.1:n.90+2754A>G |