Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32358199G>A , CM000682.2:g.32358199G>A | GRCh38 |
| NC_000020.10:g.30946002G>A , CM000682.1:g.30946002G>A | GRCh37 |
| NC_000020.9:g.30409663G>A | NCBI36 |
| NG_027868.1:g.4856G>A , LRG_630:g.4856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006723727.3:c.-577G>A | XP_006723790.1:n.-577G>A | |
| XM_017027706.1:c.-577G>A | XP_016883195.1:n.-577G>A |