Linked Data
dbSNP Id:
rs1602603290
gnomAD v4:
22-42132564-G-A
MyVariant Identifiers:
chr22:g.42528571G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132564G>A , CM000684.2:g.42132564G>A | GRCh38 |
| NC_000022.10:g.42528571G>A , CM000684.1:g.42528571G>A | GRCh37 |
| NC_000022.9:g.40858515G>A | NCBI36 |
| NG_008376.3:g.2428C>T | |
| NG_008376.4:g.3247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.22G>A | ||
| XM_011529967.1:c.-1045-728C>T | XP_011528269.1:n.-1045-728C>T |