Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658278T= , CM000684.2:g.21658278T= | GRCh38 |
| NC_000022.10:g.22012567T= , CM000684.1:g.22012567T= | GRCh37 |
| NC_000022.9:g.20342567T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641967.1:n.175T= | ||
| ENST00000498589.1:n.355T= | ||
| XM_017029165.1:c.490T= | XP_016884654.1:p.Cys164= | |
| NR_169729.1:n.1090T= | ||
| NR_169730.1:n.993T= | ||
| NR_169731.1:n.432-2559T= | ||
| NR_169732.1:n.144T= | ||
| NR_169733.1:n.214-12T= | ||
| NR_169734.1:n.226T= |