gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82401903 (EAS)
Genomes Max Group AF
0.82401903 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157059580T>C , CM000667.2:g.157059580T>C | GRCh38 |
| NC_000005.9:g.156486591T>C , CM000667.1:g.156486591T>C | GRCh37 |
| NC_000005.8:g.156419169T>C | NCBI36 |
| NG_017001.1:g.4380A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699093.1:c.-12-1625A>G | ENSP00000514125.1:n.-12-1625A>G | |
| XM_011534511.1:c.-133-1504A>G | XP_011532813.1:n.-133-1504A>G | |
| XM_011534513.1:c.-12-1625A>G | XP_011532815.1:n.-12-1625A>G | |
| XM_024446020.1:c.-136-1501A>G | XP_024301788.1:n.-136-1501A>G | |
| XM_024446021.1:c.-133-1504A>G | XP_024301789.1:n.-133-1504A>G | |
| XM_024446023.1:c.-12-1625A>G | XP_024301791.1:n.-12-1625A>G |