Linked Data
dbSNP Id:
rs1930848974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126134G>A , CM000684.2:g.42126134G>A | GRCh38 |
| NG_008376.3:g.8858C>T | |
| NG_008376.4:g.9677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-181C>T | XP_011528268.1:n.1453-181C>T | |
| XM_011529967.1:c.1453-181C>T | XP_011528269.1:n.1453-181C>T | |
| XM_011529968.1:c.1453-207C>T | XP_011528270.1:n.1453-207C>T | |
| XM_011529969.1:c.1309-181C>T | XP_011528271.1:n.1309-181C>T | |
| XM_011529970.1:c.1300-181C>T | XP_011528272.1:n.1300-181C>T |