gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97131825 (EAS)
Genomes Max Group AF
0.97131825 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15949317C>G , CM000678.2:g.15949317C>G | GRCh38 |
| NC_000016.9:g.16043174C>G , CM000678.1:g.16043174C>G | GRCh37 |
| NC_000016.8:g.15950675C>G | NCBI36 |
| NG_028268.1:g.4741C>G | |
| NG_028268.2:g.4741C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574224.2:n.123+57C>G | ||
| XR_001752339.1:n.68G>C |