Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658388G= , CM000684.2:g.21658388G= | GRCh38 |
| NC_000022.10:g.22012677G= , CM000684.1:g.22012677G= | GRCh37 |
| NC_000022.9:g.20342677G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641967.1:n.285G= | ||
| ENST00000498589.1:n.465G= | ||
| XM_017029165.1:c.600G= | XP_016884654.1:p.Arg200= | |
| NR_169729.1:n.1200G= | ||
| NR_169730.1:n.1103G= | ||
| NR_169731.1:n.432-2449G= | ||
| NR_169732.1:n.254G= | ||
| NR_169733.1:n.312G= | ||
| NR_169734.1:n.336G= |