Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51802737A>C , CM000682.2:g.51802737A>C | GRCh38 |
| NC_000020.10:g.50419276A>C , CM000682.1:g.50419276A>C | GRCh37 |
| NC_000020.9:g.49852683A>C | NCBI36 |
| NG_008000.1:g.4773T>G , LRG_675:g.4773T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011528919.1:c.5-10385T>G | XP_011527221.1:n.5-10385T>G |