Linked Data
ClinVar Variation Id:
495799
dbSNP Id:
rs17876183
ExAC:
7:95064268 C / T
gnomAD v2:
7-95064268-C-T
gnomAD v3:
7-95434956-C-T
gnomAD v4:
7-95434956-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95434956C>T , CM000669.2:g.95434956C>T | GRCh38 |
| NC_000007.13:g.95064268C>T , CM000669.1:g.95064268C>T | GRCh37 |
| NC_000007.12:g.94902204C>T | NCBI36 |
| NG_008725.1:g.5117G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222572.8:c.-5G>A MANE Select | ENSP00000222572.3:n.-5G>A | |
| ENST00000222572.7:c.-5G>A | ENSP00000222572.3:n.-5G>A | |
| ENST00000433091.6:c.-5G>A | ENSP00000404622.2:n.-5G>A | |
| ENST00000446142.5:c.-5G>A | ENSP00000405211.1:n.-5G>A | |
| ENST00000455123.5:c.-5G>A | ENSP00000414515.1:n.-5G>A | |
| ENST00000469716.1:n.73G>A | ||
| ENST00000469926.5:c.-262G>A | ENSP00000488550.1:n.-262G>A | |
| ENST00000471883.1:n.75G>A | ||
| ENST00000490778.5:c.-317G>A | ENSP00000488826.1:n.-317G>A | |
| ENST00000493290.5:c.-338G>A | ENSP00000488822.1:n.-338G>A | |
| ENST00000493469.5:n.8G>A | ||
| ENST00000632034.1:c.-5G>A | ENSP00000487898.1:n.-5G>A | |
| ENST00000633192.1:c.59G>A | ENSP00000488378.1:p.Arg20His | |
| ENST00000633531.1:c.-5G>A | ENSP00000488838.1:n.-5G>A | |
| NM_000305.2:c.-5G>A | NP_000296.2:n.-5G>A | |
| NM_001018161.1:c.-5G>A | NP_001018171.1:n.-5G>A | |
| XM_005250453.1:c.-183G>A | XP_005250510.1:n.-183G>A | |
| XM_005250454.1:c.-259G>A | XP_005250511.1:n.-259G>A | |
| XM_011516333.1:c.-333G>A | XP_011514635.1:n.-333G>A | |
| XM_017012357.2:c.-259G>A | XP_016867846.1:n.-259G>A | |
| XM_017012358.2:c.-333G>A | XP_016867847.1:n.-333G>A | |
| NM_000305.3:c.-5G>A MANE Select | NP_000296.2:n.-5G>A | |
| NM_001018161.2:c.-5G>A | NP_001018171.1:n.-5G>A |