Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658394G>A , CM000684.2:g.21658394G>A | GRCh38 |
| NC_000022.10:g.22012683G>A , CM000684.1:g.22012683G>A | GRCh37 |
| NC_000022.9:g.20342683G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641967.1:n.286+5G>A | ||
| ENST00000498589.1:n.471G>A | ||
| XM_017029165.1:c.606G>A | XP_016884654.1:p.Glu202= | |
| NR_169729.1:n.1206G>A | ||
| NR_169730.1:n.1109G>A | ||
| NR_169731.1:n.432-2443G>A | ||
| NR_169732.1:n.260G>A | ||
| NR_169733.1:n.318G>A | ||
| NR_169734.1:n.342G>A |