gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80868395 (EAS)
Genomes Max Group AF
0.80868395 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162368011A>G , CM000664.2:g.162368011A>G | GRCh38 |
| NC_000002.11:g.163224521A>G , CM000664.1:g.163224521A>G | GRCh37 |
| NC_000002.10:g.162932767A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414723.1:c.366-3295A>G | ||
| XM_005246446.2:c.628-3295A>G | XP_005246503.1:n.628-3295A>G | |
| XM_006712398.2:c.706-3295A>G | XP_006712461.1:n.706-3295A>G | |
| XM_006712399.2:c.705+8459A>G | XP_006712462.1:n.705+8459A>G | |
| XM_006712400.2:c.673-3295A>G | XP_006712463.1:n.673-3295A>G | |
| XM_011510926.1:c.571-3295A>G | XP_011509228.1:n.571-3295A>G | |
| XM_011510928.1:c.340-3295A>G | XP_011509230.1:n.340-3295A>G | |
| XM_005246446.3:c.628-3295A>G | XP_005246503.1:n.628-3295A>G | |
| XM_006712398.4:c.706-3295A>G | XP_006712461.1:n.706-3295A>G | |
| XM_006712400.4:c.673-3295A>G | XP_006712463.1:n.673-3295A>G | |
| XM_011510926.2:c.571-3295A>G | XP_011509228.1:n.571-3295A>G | |
| XM_011510928.2:c.340-3295A>G | XP_011509230.1:n.340-3295A>G | |
| XM_017003767.1:c.571-3295A>G | XP_016859256.1:n.571-3295A>G |