gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86743201 (EAS)
Genomes Max Group AF
0.86743201 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50411265A>G , CM000676.2:g.50411265A>G | GRCh38 |
| NC_000014.8:g.50877983A>G , CM000676.1:g.50877983A>G | GRCh37 |
| NC_000014.7:g.49947733A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356146.5:n.37-617T>C |