gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65738001 (EAS)
Genomes Max Group AF
0.65738001 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.79281641T>C , CM000673.2:g.79281641T>C | GRCh38 |
| NC_000011.9:g.78992686T>C , CM000673.1:g.78992686T>C | GRCh37 |
| NC_000011.8:g.78670334T>C | NCBI36 |
| NG_051803.1:g.164011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.-265+15847A>G MANE Select | ENSP00000278550.7:n.-265+15847A>G | |
| ENST00000278550.11:c.-265+15847A>G | ENSP00000278550.7:n.-265+15847A>G | |
| ENST00000528688.5:n.295+15847A>G | ||
| ENST00000531583.1:n.496+15847A>G | ||
| NM_001098816.2:c.-265+15847A>G | NP_001092286.2:n.-265+15847A>G | |
| XM_011544924.1:c.-93+15847A>G | XP_011543226.1:n.-93+15847A>G | |
| XM_011544925.1:c.-237+15847A>G | XP_011543227.1:n.-237+15847A>G | |
| XM_011544927.1:c.-93+15847A>G | XP_011543229.1:n.-93+15847A>G | |
| XM_011544928.1:c.-265+15847A>G | XP_011543230.1:n.-265+15847A>G | |
| XM_011544929.1:c.-93+15847A>G | XP_011543231.1:n.-93+15847A>G | |
| XM_011544930.1:c.-605+15847A>G | XP_011543232.1:n.-605+15847A>G | |
| XM_017017525.1:c.-93+15847A>G | XP_016873014.1:n.-93+15847A>G | |
| NM_001098816.3:c.-265+15847A>G MANE Select | NP_001092286.2:n.-265+15847A>G |