Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665310G>C , CM000679.2:g.39665310G>C | GRCh38 |
| NC_000017.10:g.37821563G>C , CM000679.1:g.37821563G>C | GRCh37 |
| NC_000017.9:g.35075089G>C | NCBI36 |
| NG_008892.1:g.4965G>C , LRG_210:g.4965G>C | |
| NG_042278.1:g.2330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-50G>C | ENSP00000312624.2:n.-50G>C |