Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26662967T>C , CM000684.2:g.26662967T>C | GRCh38 |
| NC_000022.10:g.27058931T>C , CM000684.1:g.27058931T>C | GRCh37 |
| NC_000022.9:g.25388931T>C | NCBI36 |
| NG_016621.2:g.10486T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003491.3:n.174-349T>C | ||
| NR_033319.2:n.174-349T>C | ||
| NR_033320.2:n.174-349T>C | ||
| NR_033321.2:n.174-349T>C |