gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24566633 (EAS)
Genomes Max Group AF
0.24566633 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.107823394T>C , CM000663.2:g.107823394T>C | GRCh38 |
| NC_000001.10:g.108366016T>C , CM000663.1:g.108366016T>C | GRCh37 |
| NC_000001.9:g.108167539T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370056.9:c.322-43902A>G MANE Select | ENSP00000359073.4:n.322-43902A>G | |
| ENST00000370056.8:c.322-43902A>G | ENSP00000359073.4:n.322-43902A>G | |
| ENST00000469325.5:n.297-43902A>G | ||
| ENST00000490388.2:c.306-43902A>G | ||
| ENST00000527011.5:c.322-43902A>G | ENSP00000432540.1:n.322-43902A>G | |
| ENST00000530671.1:n.271+39290A>G | ||
| NM_006113.4:c.322-43902A>G | NP_006104.4:n.322-43902A>G | |
| XM_005270361.1:c.322-43902A>G | XP_005270418.1:n.322-43902A>G | |
| XM_011540502.1:c.370-43902A>G | XP_011538804.1:n.370-43902A>G | |
| XM_011540503.1:c.370-43902A>G | XP_011538805.1:n.370-43902A>G | |
| XM_011540504.1:c.370-43902A>G | XP_011538806.1:n.370-43902A>G | |
| XM_011540505.1:c.370-43902A>G | XP_011538807.1:n.370-43902A>G | |
| XM_011540506.1:c.370-43902A>G | XP_011538808.1:n.370-43902A>G | |
| XR_946522.1:n.448-43902A>G | ||
| XM_017000053.1:c.322-43902A>G | XP_016855542.1:n.322-43902A>G | |
| XM_017000054.1:c.322-43902A>G | XP_016855543.1:n.322-43902A>G | |
| XM_024450319.1:c.61-43902A>G | XP_024306087.1:n.61-43902A>G | |
| XR_001736913.1:n.369-43902A>G | ||
| NM_006113.5:c.322-43902A>G MANE Select | NP_006104.4:n.322-43902A>G |