Linked Data
dbSNP Id:
rs1197038956
gnomAD v2:
22-42522205-C-T
gnomAD v3:
22-42126203-C-T
gnomAD v4:
22-42126203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126203C>T , CM000684.2:g.42126203C>T | GRCh38 |
| NC_000022.10:g.42522205C>T , CM000684.1:g.42522205C>T | GRCh37 |
| NC_000022.9:g.40852149C>T | NCBI36 |
| NG_008376.3:g.8789G>A | |
| NG_008376.4:g.9608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-250G>A | XP_011528268.1:n.1453-250G>A | |
| XM_011529967.1:c.1453-250G>A | XP_011528269.1:n.1453-250G>A | |
| XM_011529968.1:c.1453-276G>A | XP_011528270.1:n.1453-276G>A | |
| XM_011529969.1:c.1309-250G>A | XP_011528271.1:n.1309-250G>A | |
| XM_011529970.1:c.1300-250G>A | XP_011528272.1:n.1300-250G>A |