gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015896 (NFE)
Genomes Max Group AF
0.00011229 (NFE)
Exomes Max Group AF
0.00015784 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299371C>T , CM000673.2:g.299371C>T | GRCh38 |
| NC_000011.9:g.299371C>T , CM000673.1:g.299371C>T | GRCh37 |
| NC_000011.8:g.289371C>T | NCBI36 |
| NG_032892.1:g.5156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.120G>A MANE Select | ENSP00000372059.2:p.Ser40= | |
| NM_001025295.2:c.120G>A | NP_001020466.1:p.Ser40= | |
| NM_001025295.3:c.120G>A MANE Select | NP_001020466.1:p.Ser40= |