gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16537336 (SAS)
Genomes Max Group AF
0.16537336 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28923310C>G , CM000665.2:g.28923310C>G | GRCh38 |
| NC_000003.11:g.28964801C>G , CM000665.1:g.28964801C>G | GRCh37 |
| NC_000003.10:g.28939805C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635992.1:c.*408+58018C>G | ENSP00000489994.1:n.*408+58018C>G | |
| ENST00000636582.1:n.239-52295C>G | ||
| ENST00000636680.2:c.282+58018C>G | ENSP00000490271.2:n.282+58018C>G | |
| ENST00000636900.1:n.238+58018C>G | ||
| ENST00000637842.1:c.148+24748C>G | ENSP00000489718.1:n.148+24748C>G |