Linked Data
dbSNP Id:
rs945074849
gnomAD v2:
12-93980014-G-A
gnomAD v3:
12-93586238-G-A
gnomAD v4:
12-93586238-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586238G>A , CM000674.2:g.93586238G>A | GRCh38 |
| NC_000012.11:g.93980014G>A , CM000674.1:g.93980014G>A | GRCh37 |
| NC_000012.10:g.92504145G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005269213.3:c.*479G>A | XP_005269270.2:n.*479G>A | |
| XM_006719673.1:c.*479G>A | XP_006719736.1:n.*479G>A | |
| XM_006719674.1:c.*479G>A | XP_006719737.1:n.*479G>A | |
| XM_011538929.1:c.*479G>A | XP_011537231.1:n.*479G>A | |
| XM_011538930.1:c.*479G>A | XP_011537232.1:n.*479G>A | |
| XM_011538931.1:c.*479G>A | XP_011537233.1:n.*479G>A | |
| XM_011538932.1:c.*479G>A | XP_011537234.1:n.*479G>A | |
| XM_011538933.1:c.*479G>A | XP_011537235.1:n.*479G>A | |
| XM_011538934.1:c.*479G>A | XP_011537236.1:n.*479G>A | |
| XM_011538935.1:c.591+11065G>A | XP_011537237.1:n.591+11065G>A | |
| XR_944810.1:n.1823G>A |