Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658391C= , CM000684.2:g.21658391C= | GRCh38 |
| NC_000022.10:g.22012680C= , CM000684.1:g.22012680C= | GRCh37 |
| NC_000022.9:g.20342680C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641967.1:n.286+2C= | ||
| ENST00000498589.1:n.468C= | ||
| XM_017029165.1:c.603C= | XP_016884654.1:p.Gly201= | |
| NR_169729.1:n.1203C= | ||
| NR_169730.1:n.1106C= | ||
| NR_169731.1:n.432-2446C= | ||
| NR_169732.1:n.257C= | ||
| NR_169733.1:n.315C= | ||
| NR_169734.1:n.339C= |