Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67491113G>A , CM000673.2:g.67491113G>A | GRCh38 |
| NC_000011.9:g.67258584G>A , CM000673.1:g.67258584G>A | GRCh37 |
| NC_000011.8:g.67015160G>A | NCBI36 |
| NG_008969.1:g.13080G>A , LRG_460:g.13080G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684657.1:c.*120G>A | ENSP00000507961.1:n.*120G>A |