gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48225808 (AFR)
Genomes Max Group AF
0.48225808 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17796343G>A , CM000666.2:g.17796343G>A | GRCh38 |
| NC_000004.11:g.17797966G>A , CM000666.1:g.17797966G>A | GRCh37 |
| NC_000004.10:g.17407064G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925444.1:n.2007C>T | ||
| NR_144301.1:n.800-1291C>T | ||
| NR_144303.1:n.681-1291C>T | ||
| NR_144305.1:n.666-1291C>T | ||
| NR_144310.1:n.785-1291C>T | ||
| NR_144301.2:n.799-1291C>T | ||
| NR_144303.2:n.680-1291C>T | ||
| NR_144305.2:n.665-1291C>T | ||
| NR_144310.2:n.784-1291C>T |