gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16529491 (AFR)
Genomes Max Group AF
0.16529491 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135097497C>T , CM000668.2:g.135097497C>T | GRCh38 |
| NC_000006.11:g.135418635C>T , CM000668.1:g.135418635C>T | GRCh37 |
| NC_000006.10:g.135460328C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529882.5:c.88+5431G>A | ENSP00000433030.1:n.88+5431G>A |