gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78981515 (NFE)
Genomes Max Group AF
0.78981515 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97535040G>A , CM000672.2:g.97535040G>A | GRCh38 |
| NC_000010.10:g.99294797G>A , CM000672.1:g.99294797G>A | GRCh37 |
| NC_000010.9:g.99284787G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370664.4:c.71-32874G>A MANE Select | ENSP00000359698.3:n.71-32874G>A | |
| ENST00000370664.3:c.71-32874G>A | ENSP00000359698.3:n.71-32874G>A | |
| NM_024954.4:c.71-32874G>A | NP_079230.1:n.71-32874G>A | |
| NM_024954.5:c.71-32874G>A MANE Select | NP_079230.1:n.71-32874G>A |