Linked Data
dbSNP Id:
rs1348832047
gnomAD v2:
19-1206833-A-G
gnomAD v3:
19-1206834-A-G
gnomAD v4:
19-1206834-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1206834A>G , CM000681.2:g.1206834A>G | GRCh38 |
| NC_000019.9:g.1206833A>G , CM000681.1:g.1206833A>G | GRCh37 |
| NC_000019.8:g.1157833A>G | NCBI36 |
| NG_007460.2:g.22428A>G , LRG_319:g.22428A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.-80A>G | ENSP00000490268.2:n.-80A>G | |
| ENST00000585748.3:c.-82-11583A>G | ENSP00000477641.2:n.-82-11583A>G | |
| ENST00000326873.12:c.-80A>G MANE Select | ENSP00000324856.6:n.-80A>G | |
| ENST00000652231.1:c.-80A>G | ENSP00000498804.1:n.-80A>G | |
| ENST00000326873.11:c.-80A>G | ENSP00000324856.6:n.-80A>G | |
| ENST00000585748.2:c.-82-11583A>G | ENSP00000477641.1:n.-82-11583A>G | |
| ENST00000586243.5:c.-80A>G | ENSP00000467240.2:n.-80A>G | |
| ENST00000589152.5:n.11A>G | ||
| ENST00000593219.5:c.-80A>G | ENSP00000466610.1:n.-80A>G | |
| NM_000455.4:c.-80A>G , LRG_319t1:c.-80A>G | NP_000446.1:n.-80A>G | |
| XM_005259617.1:c.-80A>G | XP_005259674.1:n.-80A>G | |
| XM_005259618.3:c.-80A>G | XP_005259675.1:n.-80A>G | |
| XM_011528209.1:c.-433A>G | XP_011526511.1:n.-433A>G | |
| XR_936204.1:n.546A>G | ||
| XM_005259617.3:c.-80A>G | XP_005259674.1:n.-80A>G | |
| XM_011528209.2:c.-433A>G | XP_011526511.1:n.-433A>G | |
| XR_001753738.2:n.546A>G | ||
| XR_001753739.1:n.546A>G | ||
| XR_001753740.2:n.546A>G | ||
| NM_000455.5:c.-80A>G MANE Select | NP_000446.1:n.-80A>G |