gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83662546 (AFR)
Genomes Max Group AF
0.83662546 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.19785357C>T , CM000668.2:g.19785357C>T | GRCh38 |
| NC_000006.11:g.19785588C>T , CM000668.1:g.19785588C>T | GRCh37 |
| NC_000006.10:g.19893567C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_134651.1:n.155+16730G>A |