gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8488423 (AFR)
Genomes Max Group AF
0.8488423 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59866020G>A , CM000673.2:g.59866020G>A | GRCh38 |
| NC_000011.9:g.59633493G>A , CM000673.1:g.59633493G>A | GRCh37 |
| NC_000011.8:g.59390069G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257264.4:c.79+372C>T MANE Select | ENSP00000257264.3:n.79+372C>T | |
| ENST00000257264.3:c.79+372C>T | ENSP00000257264.3:n.79+372C>T | |
| ENST00000532419.5:n.98+372C>T | ||
| ENST00000534531.1:n.80+372C>T | ||
| NM_001062.3:c.79+372C>T | NP_001053.2:n.79+372C>T | |
| NM_001062.4:c.79+372C>T MANE Select | NP_001053.2:n.79+372C>T |