Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8885071C>G , CM000682.2:g.8885071C>G | GRCh38 |
| NC_000020.10:g.8865718C>G , CM000682.1:g.8865718C>G | GRCh37 |
| NC_000020.9:g.8813718C>G | NCBI36 |
| NG_028168.1:g.757423C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000487210.5:c.2764-77125C>G | |
| ENST00000635929.1:c.593-77125C>G |