gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33142159 (AFR)
Genomes Max Group AF
0.33142159 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128554935T>C , CM000670.2:g.128554935T>C | GRCh38 |
| NC_000008.10:g.129567181T>C , CM000670.1:g.129567181T>C | GRCh37 |
| NC_000008.9:g.129636363T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+6135A>G |