gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47107556 (AFR)
Genomes Max Group AF
0.47107556 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17045697C>T , CM000669.2:g.17045697C>T | GRCh38 |
| NC_000007.13:g.17085321C>T , CM000669.1:g.17085321C>T | GRCh37 |
| NC_000007.12:g.17051846C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645559.1:n.30+129309C>T |