Linked Data
dbSNP Id:
rs531439953
gnomAD v2:
5-69372481-T-G
gnomAD v3:
5-70076654-T-G
gnomAD v4:
5-70076654-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70076654T>G , CM000667.2:g.70076654T>G | GRCh38 |
| NC_000005.9:g.69372481T>G , CM000667.1:g.69372481T>G | GRCh37 |
| NC_000005.8:g.69408237T>G | NCBI36 |
| NG_008728.1:g.32132T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380743.9:c.*3+80T>G MANE Select | ENSP00000370119.4:n.*3+80T>G | |
| ENST00000380742.8:c.*3+80T>G | ENSP00000370118.4:n.*3+80T>G | |
| ENST00000380743.8:c.*3+80T>G | ENSP00000370119.4:n.*3+80T>G | |
| ENST00000505346.5:n.434T>G | ||
| ENST00000506734.5:c.*59-365T>G | ENSP00000424799.1:n.*59-365T>G | |
| ENST00000507458.2:c.142+80T>G | ||
| ENST00000511812.5:c.*83T>G | ENSP00000424282.1:n.*83T>G | |
| ENST00000514914.1:n.429+80T>G | ||
| ENST00000626847.2:c.835-365T>G | ENSP00000486152.1:n.835-365T>G | |
| NM_017411.3:c.*3+80T>G | NP_059107.1:n.*3+80T>G | |
| NM_022875.2:c.835-365T>G | NP_075013.1:n.835-365T>G | |
| NM_022876.2:c.*3+80T>G | NP_075014.1:n.*3+80T>G | |
| NM_022877.2:c.739-365T>G | NP_075015.1:n.739-365T>G | |
| XM_011543600.1:c.*3+80T>G | XP_011541902.1:n.*3+80T>G | |
| XM_011543601.1:c.634-365T>G | XP_011541903.1:n.634-365T>G | |
| XM_011543602.1:c.*3+80T>G | XP_011541904.1:n.*3+80T>G | |
| XM_011543603.1:c.538-365T>G | XP_011541905.1:n.538-365T>G | |
| XR_948432.1:n.1054+88650T>G | ||
| XM_011543600.2:c.*3+80T>G | XP_011541902.1:n.*3+80T>G | |
| XM_011543602.3:c.*3+80T>G | XP_011541904.1:n.*3+80T>G | |
| XM_011543603.3:c.538-365T>G | XP_011541905.1:n.538-365T>G | |
| NM_017411.4:c.*3+80T>G MANE Select | NP_059107.1:n.*3+80T>G | |
| NM_022875.3:c.835-365T>G | NP_075013.1:n.835-365T>G |