Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665293C= , CM000679.2:g.39665293C= | GRCh38 |
| NC_000017.10:g.37821546C= , CM000679.1:g.37821546C= | GRCh37 |
| NC_000017.9:g.35075072C= | NCBI36 |
| NG_008892.1:g.4948C= , LRG_210:g.4948C= | |
| NG_042278.1:g.2313C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-67C= | ENSP00000312624.2:n.-67C= |