Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345173A>C , CM000663.2:g.218345173A>C | GRCh38 |
| NC_000001.10:g.218518515A>C , CM000663.1:g.218518515A>C | GRCh37 |
| NC_000001.9:g.216585138A>C | NCBI36 |
| NG_027721.1:g.4840A>C | |
| NG_027721.2:g.4840A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_046268.1:n.290+2T>G |