gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13618403 (AFR)
Genomes Max Group AF
0.13618403 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.14309673G>A , CM000683.2:g.14309673G>A | GRCh38 |
| NC_000021.8:g.15681994G>A , CM000683.1:g.15681994G>A | GRCh37 |
| NC_000021.7:g.14603865G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688334.1:n.937+1054G>A | ||
| ENST00000689702.1:n.1481+1054G>A | ||
| ENST00000690439.1:n.949+1054G>A | ||
| ENST00000691950.1:n.1273+1054G>A | ||
| ENST00000463099.1:n.1471+575G>A | ||
| ENST00000482980.5:n.1189+1054G>A |