gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45865637 (EAS)
Genomes Max Group AF
0.45865637 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27648561T>C , CM000673.2:g.27648561T>C | GRCh38 |
| NC_000011.9:g.27670108T>C , CM000673.1:g.27670108T>C | GRCh37 |
| NC_000011.8:g.27626684T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002832.2:n.374+8556T>C | ||
| NR_033312.1:n.305+8556T>C | ||
| NR_033313.1:n.305+8556T>C | ||
| NR_033314.1:n.374+8556T>C | ||
| NR_033315.1:n.305+8556T>C |