gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2537175 (EAS)
Genomes Max Group AF
0.2537175 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110460907G>A , CM000673.2:g.110460907G>A | GRCh38 |
| NC_000011.9:g.110331631G>A , CM000673.1:g.110331631G>A | GRCh37 |
| NC_000011.8:g.109836841G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260270.3:c.441-1447G>A MANE Select | ENSP00000260270.2:n.441-1447G>A | |
| ENST00000260270.2:c.441-1447G>A | ENSP00000260270.2:n.441-1447G>A | |
| NM_004109.4:c.441-1447G>A | NP_004100.1:n.441-1447G>A | |
| NM_004109.5:c.441-1447G>A MANE Select | NP_004100.1:n.441-1447G>A |