gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46370268 (AMR)
Genomes Max Group AF
0.46370268 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160011091T>G , CM000665.2:g.160011091T>G | GRCh38 |
| NC_000003.11:g.159728878T>G , CM000665.1:g.159728878T>G | GRCh37 |
| NC_000003.10:g.161211572T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108088.1:n.583-1834A>C |