Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658390G= , CM000684.2:g.21658390G= | GRCh38 |
| NC_000022.10:g.22012679G= , CM000684.1:g.22012679G= | GRCh37 |
| NC_000022.9:g.20342679G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641967.1:n.286+1G= | ||
| ENST00000498589.1:n.467G= | ||
| XM_017029165.1:c.602G= | XP_016884654.1:p.Gly201= | |
| NR_169729.1:n.1202G= | ||
| NR_169730.1:n.1105G= | ||
| NR_169731.1:n.432-2447G= | ||
| NR_169732.1:n.256G= | ||
| NR_169733.1:n.314G= | ||
| NR_169734.1:n.338G= |