Linked Data
dbSNP Id:
rs564381826
gnomAD v2:
5-69372479-C-T
gnomAD v3:
5-70076652-C-T
gnomAD v4:
5-70076652-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70076652C>T , CM000667.2:g.70076652C>T | GRCh38 |
| NC_000005.9:g.69372479C>T , CM000667.1:g.69372479C>T | GRCh37 |
| NC_000005.8:g.69408235C>T | NCBI36 |
| NG_008728.1:g.32130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380743.9:c.*3+78C>T MANE Select | ENSP00000370119.4:n.*3+78C>T | |
| ENST00000380742.8:c.*3+78C>T | ENSP00000370118.4:n.*3+78C>T | |
| ENST00000380743.8:c.*3+78C>T | ENSP00000370119.4:n.*3+78C>T | |
| ENST00000505346.5:n.432C>T | ||
| ENST00000506734.5:c.*59-367C>T | ENSP00000424799.1:n.*59-367C>T | |
| ENST00000507458.2:c.142+78C>T | ||
| ENST00000511812.5:c.*81C>T | ENSP00000424282.1:n.*81C>T | |
| ENST00000514914.1:n.429+78C>T | ||
| ENST00000626847.2:c.835-367C>T | ENSP00000486152.1:n.835-367C>T | |
| NM_017411.3:c.*3+78C>T | NP_059107.1:n.*3+78C>T | |
| NM_022875.2:c.835-367C>T | NP_075013.1:n.835-367C>T | |
| NM_022876.2:c.*3+78C>T | NP_075014.1:n.*3+78C>T | |
| NM_022877.2:c.739-367C>T | NP_075015.1:n.739-367C>T | |
| XM_011543600.1:c.*3+78C>T | XP_011541902.1:n.*3+78C>T | |
| XM_011543601.1:c.634-367C>T | XP_011541903.1:n.634-367C>T | |
| XM_011543602.1:c.*3+78C>T | XP_011541904.1:n.*3+78C>T | |
| XM_011543603.1:c.538-367C>T | XP_011541905.1:n.538-367C>T | |
| XR_948432.1:n.1054+88648C>T | ||
| XM_011543600.2:c.*3+78C>T | XP_011541902.1:n.*3+78C>T | |
| XM_011543602.3:c.*3+78C>T | XP_011541904.1:n.*3+78C>T | |
| XM_011543603.3:c.538-367C>T | XP_011541905.1:n.538-367C>T | |
| NM_017411.4:c.*3+78C>T MANE Select | NP_059107.1:n.*3+78C>T | |
| NM_022875.3:c.835-367C>T | NP_075013.1:n.835-367C>T |