Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45405102G>C , CM000683.2:g.45405102G>C | GRCh38 |
| NC_000021.8:g.46825017G>C , CM000683.1:g.46825017G>C | GRCh37 |
| NC_000021.7:g.45649445G>C | NCBI36 |
| NG_011903.1:g.4921G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_244333.2:n.83+258C>G |