Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5250030A>C , CM000673.2:g.5250030A>C | GRCh38 |
| NC_000011.9:g.5271260A>C , CM000673.1:g.5271260A>C | GRCh37 |
| NC_000011.8:g.5227836A>C | NCBI36 |
| NG_000007.3:g.47586T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.316-1543T>G | ENSP00000495346.1:n.316-1543T>G | |
| ENST00000647543.1:c.379-1543T>G | ENSP00000496470.1:n.379-1543T>G | |
| ENST00000620888.4:c.316-1543T>G | ENSP00000479637.1:n.316-1543T>G |