Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665296T>G , CM000679.2:g.39665296T>G | GRCh38 |
| NC_000017.10:g.37821549T>G , CM000679.1:g.37821549T>G | GRCh37 |
| NC_000017.9:g.35075075T>G | NCBI36 |
| NG_008892.1:g.4951T>G , LRG_210:g.4951T>G | |
| NG_042278.1:g.2316T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-64T>G | ENSP00000312624.2:n.-64T>G |