gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80248482 (NFE)
Genomes Max Group AF
0.80248482 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98443780A>G , CM000675.2:g.98443780A>G | GRCh38 |
| NC_000013.10:g.99096034A>G , CM000675.1:g.99096034A>G | GRCh37 |
| NC_000013.9:g.97894035A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319562.11:c.2797-2318A>G MANE Select | ENSP00000322926.6:n.2797-2318A>G | |
| ENST00000319562.10:c.2797-2318A>G | ENSP00000322926.6:n.2797-2318A>G | |
| ENST00000595437.5:c.2890-2318A>G | ENSP00000471242.1:n.2890-2318A>G | |
| ENST00000627049.2:c.2890-2318A>G | ENSP00000486285.1:n.2890-2318A>G | |
| NM_001286839.1:c.2890-2318A>G | NP_001273768.1:n.2890-2318A>G | |
| NM_005766.3:c.2797-2318A>G | NP_005757.1:n.2797-2318A>G | |
| XM_011521046.1:c.2890-2318A>G | XP_011519348.1:n.2890-2318A>G | |
| XM_011521046.2:c.2890-2318A>G | XP_011519348.1:n.2890-2318A>G | |
| XM_017020312.1:c.2797-2318A>G | XP_016875801.1:n.2797-2318A>G | |
| XM_017020313.2:c.2737-2318A>G | XP_016875802.1:n.2737-2318A>G | |
| NM_001286839.2:c.2890-2318A>G | NP_001273768.1:n.2890-2318A>G | |
| NM_005766.4:c.2797-2318A>G MANE Select | NP_005757.1:n.2797-2318A>G |