gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73789849 (NFE)
Genomes Max Group AF
0.73789849 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23507801A>G , CM000676.2:g.23507801A>G | GRCh38 |
| NC_000014.8:g.23977010A>G , CM000676.1:g.23977010A>G | GRCh37 |
| NC_000014.7:g.23046850A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556699.2:c.929-1539A>G | ENSP00000451942.2:n.929-1539A>G | |
| ENST00000703257.1:c.871-1539A>G | ENSP00000515246.1:n.871-1539A>G | |
| ENST00000556699.1:c.203-1539A>G | ENSP00000451942.1:n.203-1539A>G |