gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64369681 (AFR)
Genomes Max Group AF
0.64369681 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135307426T>C , CM000667.2:g.135307426T>C | GRCh38 |
| NC_000005.9:g.134643116T>C , CM000667.1:g.134643116T>C | GRCh37 |
| NC_000005.8:g.134671015T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-361-26332T>C | NP_001264277.1:n.-361-26332T>C | |
| NR_161235.1:n.468-26332T>C |