Linked Data
dbSNP Id:
rs1379548459
gnomAD v2:
22-42528400-C-T
gnomAD v3:
22-42132393-C-T
gnomAD v4:
22-42132393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132393C>T , CM000684.2:g.42132393C>T | GRCh38 |
| NC_000022.10:g.42528400C>T , CM000684.1:g.42528400C>T | GRCh37 |
| NC_000022.9:g.40858344C>T | NCBI36 |
| NG_008376.3:g.2599G>A | |
| NG_008376.4:g.3418G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011529967.1:c.-1045-557G>A | XP_011528269.1:n.-1045-557G>A |