Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665233C= , CM000679.2:g.39665233C= | GRCh38 |
| NC_000017.10:g.37821486C= , CM000679.1:g.37821486C= | GRCh37 |
| NC_000017.9:g.35075012C= | NCBI36 |
| NG_008892.1:g.4888C= , LRG_210:g.4888C= | |
| NG_042278.1:g.2253C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-127C= | ENSP00000312624.2:n.-127C= |