gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23768333 (NFE)
Genomes Max Group AF
0.23768333 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126326280A>G , CM000673.2:g.126326280A>G | GRCh38 |
| NC_000011.9:g.126196175A>G , CM000673.1:g.126196175A>G | GRCh37 |
| NC_000011.8:g.125701385A>G | NCBI36 |
| NG_053153.1:g.27980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263579.5:c.377-5125A>G MANE Select | ENSP00000263579.4:n.377-5125A>G | |
| ENST00000263579.4:c.377-5125A>G | ENSP00000263579.4:n.377-5125A>G | |
| NM_014026.4:c.377-5125A>G | NP_054745.1:n.377-5125A>G | |
| XM_011542778.1:c.398-5125A>G | XP_011541080.1:n.398-5125A>G | |
| NM_001350236.1:c.398-5125A>G | NP_001337165.1:n.398-5125A>G | |
| NM_014026.5:c.377-5125A>G | NP_054745.1:n.377-5125A>G | |
| NM_014026.6:c.377-5125A>G MANE Select | NP_054745.1:n.377-5125A>G | |
| NM_001350236.2:c.398-5125A>G | NP_001337165.1:n.398-5125A>G |