Linked Data
dbSNP Id:
rs1080986
gnomAD v2:
22-42528216-A-T
gnomAD v3:
22-42132209-A-T
gnomAD v4:
22-42132209-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132209A>T , CM000684.2:g.42132209A>T | GRCh38 |
| NC_000022.10:g.42528216A>T , CM000684.1:g.42528216A>T | GRCh37 |
| NC_000022.9:g.40858160A>T | NCBI36 |
| NG_008376.3:g.2783T>A | |
| NG_008376.4:g.3602T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011529967.1:c.-1045-373T>A | XP_011528269.1:n.-1045-373T>A |