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