gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07442822 (NFE)
Genomes Max Group AF
0.07442822 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167789531A>G , CM000664.2:g.167789531A>G | GRCh38 |
| NC_000002.11:g.168646041A>G , CM000664.1:g.168646041A>G | GRCh37 |
| NC_000002.10:g.168354287A>G | NCBI36 |
| NG_050644.1:g.501471A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392690.4:c.-351-29141A>G MANE Select | ENSP00000376456.2:n.-351-29141A>G | |
| XM_005246931.2:c.-351-29141A>G | XP_005246988.1:n.-351-29141A>G | |
| XM_006712819.2:c.-351-29141A>G | XP_006712882.1:n.-351-29141A>G | |
| XM_011512084.1:c.-351-29141A>G | XP_011510386.1:n.-351-29141A>G | |
| XM_011512085.1:c.-367-29141A>G | XP_011510387.1:n.-367-29141A>G | |
| XM_005246931.3:c.-351-29141A>G | XP_005246988.1:n.-351-29141A>G | |
| XM_006712819.3:c.-351-29141A>G | XP_006712882.1:n.-351-29141A>G | |
| XM_011512085.2:c.-367-29141A>G | XP_011510387.1:n.-367-29141A>G | |
| NM_020981.4:c.-351-29141A>G MANE Select | NP_066191.1:n.-351-29141A>G |