Linked Data
dbSNP Id:
rs555637658
gnomAD v2:
22-22012519-C-A
gnomAD v3:
22-21658230-C-A
gnomAD v4:
22-21658230-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658230C>A , CM000684.2:g.21658230C>A | GRCh38 |
| NC_000022.10:g.22012519C>A , CM000684.1:g.22012519C>A | GRCh37 |
| NC_000022.9:g.20342519C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641967.1:n.163-36C>A | ||
| ENST00000498589.1:n.343-36C>A | ||
| XM_017029165.1:c.478-36C>A | XP_016884654.1:n.478-36C>A | |
| NR_169729.1:n.1042C>A | ||
| NR_169730.1:n.945C>A | ||
| NR_169731.1:n.432-2607C>A | ||
| NR_169732.1:n.132-36C>A | ||
| NR_169733.1:n.214-60C>A | ||
| NR_169734.1:n.214-36C>A |