Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207866126G>C , CM000663.2:g.207866126G>C | GRCh38 |
| NC_000001.10:g.208039471G>C , CM000663.1:g.208039471G>C | GRCh37 |
| NC_000001.9:g.206106094G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922491.1:n.143+1800C>G |