Linked Data
dbSNP Id:
rs1294956644
gnomAD v2:
12-93980049-A-G
gnomAD v3:
12-93586273-A-G
gnomAD v4:
12-93586273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586273A>G , CM000674.2:g.93586273A>G | GRCh38 |
| NC_000012.11:g.93980049A>G , CM000674.1:g.93980049A>G | GRCh37 |
| NC_000012.10:g.92504180A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005269213.3:c.*514A>G | XP_005269270.2:n.*514A>G | |
| XM_006719673.1:c.*514A>G | XP_006719736.1:n.*514A>G | |
| XM_006719674.1:c.*514A>G | XP_006719737.1:n.*514A>G | |
| XM_011538929.1:c.*514A>G | XP_011537231.1:n.*514A>G | |
| XM_011538930.1:c.*514A>G | XP_011537232.1:n.*514A>G | |
| XM_011538931.1:c.*514A>G | XP_011537233.1:n.*514A>G | |
| XM_011538932.1:c.*514A>G | XP_011537234.1:n.*514A>G | |
| XM_011538933.1:c.*514A>G | XP_011537235.1:n.*514A>G | |
| XM_011538934.1:c.*514A>G | XP_011537236.1:n.*514A>G | |
| XM_011538935.1:c.591+11100A>G | XP_011537237.1:n.591+11100A>G | |
| XR_944810.1:n.1858A>G |