Linked Data
dbSNP Id:
rs384262
gnomAD v2:
22-22012772-G-A
gnomAD v3:
22-21658483-G-A
gnomAD v4:
22-21658483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658483G>A , CM000684.2:g.21658483G>A | GRCh38 |
| NC_000022.10:g.22012772G>A , CM000684.1:g.22012772G>A | GRCh37 |
| NC_000022.9:g.20342772G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641967.1:n.286+94G>A | ||
| ENST00000498589.1:n.539+21G>A | ||
| XM_017029165.1:c.674+21G>A | XP_016884654.1:n.674+21G>A | |
| NR_169729.1:n.1295G>A | ||
| NR_169730.1:n.1198G>A | ||
| NR_169731.1:n.432-2354G>A | ||
| NR_169732.1:n.328+21G>A | ||
| NR_169733.1:n.386+21G>A | ||
| NR_169734.1:n.410+21G>A |