gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45294684 (SAS)
Genomes Max Group AF
0.45294684 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56447926T>C , CM000670.2:g.56447926T>C | GRCh38 |
| NC_000008.10:g.57360485T>C , CM000670.1:g.57360485T>C | GRCh37 |
| NC_000008.9:g.57523039T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125813.1:n.694+1426T>C |