Linked Data
dbSNP Id:
rs1569036577
gnomAD v2:
22-42528530-C-CT
gnomAD v3:
22-42132523-C-CT
gnomAD v4:
22-42132523-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132527dup , CM000684.2:g.42132527dup | GRCh38 |
| NC_000022.10:g.42528534dup , CM000684.1:g.42528534dup | GRCh37 |
| NC_000022.9:g.40858478dup | NCBI36 |
| NG_008376.3:g.2468dup | |
| NG_008376.4:g.3287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529967.1:c.-1045-688dup | XP_011528269.1:n.-1045-688dup |