gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40002465 (AFR)
Genomes Max Group AF
0.40002465 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22721583C>T , CM000669.2:g.22721583C>T | GRCh38 |
| NC_000007.13:g.22761202C>T , CM000669.1:g.22761202C>T | GRCh37 |
| NC_000007.12:g.22727727C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+5985G>A |