gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58098314 (EAS)
Genomes Max Group AF
0.58098314 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8404854C>T , CM000681.2:g.8404854C>T | GRCh38 |
| NC_000019.9:g.8469738C>T , CM000681.1:g.8469738C>T | GRCh37 |
| NC_000019.8:g.8375738C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+40152G>A | ENSP00000264073.6:n.-88+40152G>A |