gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04312543 (NFE)
Genomes Max Group AF
0.04312543 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21152364C>A , CM000674.2:g.21152364C>A | GRCh38 |
| NC_000012.11:g.21305298C>A , CM000674.1:g.21305298C>A | GRCh37 |
| NC_000012.10:g.21196565C>A | NCBI36 |
| NG_011745.1:g.26171C>A , LRG_1022:g.26171C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.84+10706C>A MANE Select | ENSP00000256958.2:n.84+10706C>A | |
| ENST00000256958.2:c.84+10706C>A | ENSP00000256958.2:n.84+10706C>A | |
| ENST00000543498.5:c.425+10706C>A | ||
| NM_006446.4:c.84+10706C>A , LRG_1022t1:c.84+10706C>A | NP_006437.3:n.84+10706C>A | |
| NM_006446.5:c.84+10706C>A MANE Select | NP_006437.3:n.84+10706C>A |