gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41831258 (MID)
Genomes Max Group AF
0.4085711 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169742185T>C , CM000663.2:g.169742185T>C | GRCh38 |
| NC_000001.10:g.169711326T>C , CM000663.1:g.169711326T>C | GRCh37 |
| NC_000001.9:g.167977950T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498289.5:n.852-41626T>C (FIRRM) | ||
| ENST00000609271.1:c.-201-8062A>G (SELE) | ENSP00000476784.1:n.-201-8062A>G |