Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665274C>A , CM000679.2:g.39665274C>A | GRCh38 |
| NC_000017.10:g.37821527C>A , CM000679.1:g.37821527C>A | GRCh37 |
| NC_000017.9:g.35075053C>A | NCBI36 |
| NG_008892.1:g.4929C>A , LRG_210:g.4929C>A | |
| NG_042278.1:g.2294C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-86C>A | ENSP00000312624.2:n.-86C>A |