gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50408187 (MID)
Genomes Max Group AF
0.38559999 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.158393594C>T , CM000667.2:g.158393594C>T | GRCh38 |
| NC_000005.9:g.157820602C>T , CM000667.1:g.157820602C>T | GRCh37 |
| NC_000005.8:g.157753180C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109888.1:n.128+16052G>A | ||
| XR_941133.1:n.92-357G>A |