gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001625 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36387877A>T , CM000668.2:g.36387877A>T | GRCh38 |
| NC_000006.11:g.36355654A>T , CM000668.1:g.36355654A>T | GRCh37 |
| NC_000006.10:g.36463632A>T | NCBI36 |
| NG_029211.1:g.4924T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926758.1:n.536+947A>T | ||
| XR_926758.2:n.89+947A>T |