Linked Data
dbSNP Id:
rs1325311154
gnomAD v2:
22-42522135-G-A
gnomAD v3:
22-42126130-G-A
gnomAD v4:
22-42126130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126130G>A , CM000684.2:g.42126130G>A | GRCh38 |
| NC_000022.10:g.42522135G>A , CM000684.1:g.42522135G>A | GRCh37 |
| NC_000022.9:g.40852079G>A | NCBI36 |
| NG_008376.3:g.8862C>T | |
| NG_008376.4:g.9681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-177C>T | XP_011528268.1:n.1453-177C>T | |
| XM_011529967.1:c.1453-177C>T | XP_011528269.1:n.1453-177C>T | |
| XM_011529968.1:c.1453-203C>T | XP_011528270.1:n.1453-203C>T | |
| XM_011529969.1:c.1309-177C>T | XP_011528271.1:n.1309-177C>T | |
| XM_011529970.1:c.1300-177C>T | XP_011528272.1:n.1300-177C>T |