Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658604C= , CM000684.2:g.21658604C= | GRCh38 |
| NC_000022.10:g.22012893C= , CM000684.1:g.22012893C= | GRCh37 |
| NC_000022.9:g.20342893C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641967.1:n.286+215C= | ||
| ENST00000498589.1:n.540-39C= | ||
| XM_017029165.1:c.674+142C= | XP_016884654.1:n.674+142C= | |
| NR_169729.1:n.1416C= | ||
| NR_169730.1:n.1319C= | ||
| NR_169731.1:n.432-2233C= | ||
| NR_169732.1:n.328+142C= | ||
| NR_169733.1:n.387-39C= | ||
| NR_169734.1:n.411-39C= |