ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40669351 (NFE)
Genomes Max Group AF
0.40473485 (NFE)
Exomes Max Group AF
0.40659296 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68808384A>G , CM000674.2:g.68808384A>G | GRCh38 |
| NC_000012.11:g.69202164A>G , CM000674.1:g.69202164A>G | GRCh37 |
| NC_000012.10:g.67488431A>G | NCBI36 |
| NG_016708.1:g.5194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258149.11:c.-94A>G MANE Select | ENSP00000258149.6:n.-94A>G | |
| ENST00000258149.10:c.-94A>G | ENSP00000258149.6:n.-94A>G | |
| ENST00000393417.8:c.-94A>G | ENSP00000429021.3:n.-94A>G | |
| ENST00000258149.9:c.-94A>G | ENSP00000258149.6:n.-94A>G | |
| ENST00000311420.13:c.-94A>G | ENSP00000310742.9:n.-94A>G | |
| ENST00000393412.7:c.-112A>G | ENSP00000377064.4:n.-112A>G | |
| ENST00000393417.7:c.-112A>G | ENSP00000429021.2:n.-112A>G | |
| ENST00000428863.6:c.-112A>G | ENSP00000410694.3:n.-112A>G | |
| ENST00000462284.5:c.-112A>G | ENSP00000417281.2:n.-112A>G | |
| ENST00000493419.1:n.103A>G | ||
| NM_001145339.2:c.-94A>G | NP_001138811.1:n.-94A>G | |
| NM_002392.5:c.-94A>G | NP_002383.2:n.-94A>G | |
| XM_006719400.2:c.-281A>G | XP_006719463.1:n.-281A>G | |
| XM_006719400.4:c.-281A>G | XP_006719463.1:n.-281A>G | |
| NM_002392.6:c.-94A>G MANE Select | NP_002383.2:n.-94A>G |