gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34407679 (AFR)
Genomes Max Group AF
0.34407679 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96301498C>T , CM000677.2:g.96301498C>T | GRCh38 |
| NC_000015.9:g.96844727C>T , CM000677.1:g.96844727C>T | GRCh37 |
| NC_000015.8:g.94645731C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_102743.1:n.164-10715G>A | ||
| NR_102744.1:n.164-10715G>A | ||
| NR_125738.1:n.164-10715G>A |