gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38849396 (NFE)
Genomes Max Group AF
0.38849396 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58867410A>G , CM000676.2:g.58867410A>G | GRCh38 |
| NC_000014.8:g.59334128A>G , CM000676.1:g.59334128A>G | GRCh37 |
| NC_000014.7:g.58403881A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110547.1:n.269-26733A>G |