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