gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34151092 (AFR)
Genomes Max Group AF
0.34151092 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.124570373G>A , CM000664.2:g.124570373G>A | GRCh38 |
| NC_000002.11:g.125327950G>A , CM000664.1:g.125327950G>A | GRCh37 |
| NC_000002.10:g.125044420G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682447.1:c.1756+7050G>A MANE Select | ENSP00000508115.1:n.1756+7050G>A | |
| ENST00000431078.1:c.1753+7050G>A | ENSP00000399013.1:n.1753+7050G>A | |
| NM_130773.3:c.1753+7050G>A | NP_570129.1:n.1753+7050G>A | |
| XM_006712258.1:c.1756+7050G>A | XP_006712321.1:n.1756+7050G>A | |
| XM_017003316.1:c.1756+7050G>A | XP_016858805.1:n.1756+7050G>A | |
| NM_001367498.1:c.1756+7050G>A MANE Select | NP_001354427.1:n.1756+7050G>A | |
| NM_130773.4:c.1753+7050G>A | NP_570129.1:n.1753+7050G>A |