gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09930736 (EAS)
Genomes Max Group AF
0.10000443 (EAS)
Exomes Max Group AF
0.0983873 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80103143C>G , CM000674.2:g.80103143C>G | GRCh38 |
| NC_000012.11:g.80496923C>G , CM000674.1:g.80496923C>G | GRCh37 |
| NC_000012.10:g.79021054C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.-20+3538C>G MANE Select | ENSP00000447211.2:n.-20+3538C>G | |
| ENST00000643417.1:n.69+3538C>G | ||
| ENST00000646859.1:c.-1032+3538C>G | ENSP00000496036.1:n.-1032+3538C>G | |
| ENST00000492623.1:n.191G>C | ||
| NM_001368062.1:c.-1059+3538C>G | NP_001354991.1:n.-1059+3538C>G | |
| NM_001368062.3:c.-1032+3538C>G | NP_001354991.2:n.-1032+3538C>G | |
| NM_001378609.3:c.-20+3538C>G MANE Select | NP_001365538.2:n.-20+3538C>G | |
| NM_001378610.3:c.-592+3538C>G | NP_001365539.2:n.-592+3538C>G |