gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32771579 (AFR)
Genomes Max Group AF
0.32771579 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95738053C>T , CM000670.2:g.95738053C>T | GRCh38 |
| NC_000008.10:g.96750281C>T , CM000670.1:g.96750281C>T | GRCh37 |
| NC_000008.9:g.96819457C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038201.1:n.316-62443C>T | ||
| NR_038202.1:n.245-62443C>T | ||
| NR_038203.1:n.161-62443C>T | ||
| NR_038204.1:n.90-62443C>T | ||
| NR_038205.1:n.95-71966C>T | ||
| NR_038206.1:n.95-48385C>T | ||
| NR_038207.1:n.211-71966C>T | ||
| NR_038208.1:n.127-62443C>T | ||
| NR_038209.1:n.253-71966C>T |