gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91324801 (AFR)
Genomes Max Group AF
0.91324801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168901031G>A , CM000664.2:g.168901031G>A | GRCh38 |
| NC_000002.11:g.169757541G>A , CM000664.1:g.169757541G>A | GRCh37 |
| NC_000002.10:g.169465787G>A | NCBI36 |
| NG_011682.1:g.4792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451987.5:c.-172-10345C>T | ENSP00000393322.1:n.-172-10345C>T | |
| ENST00000472216.2:n.177-10345C>T |