gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81274101 (EAS)
Genomes Max Group AF
0.79382305 (SAS)
Exomes Max Group AF
0.81633218 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640119C>T , CM000673.2:g.640119C>T | GRCh38 |
| NC_000011.9:g.640119C>T , CM000673.1:g.640119C>T | GRCh37 |
| NC_000011.8:g.630119C>T | NCBI36 |
| NG_021241.1:g.7815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.870C>T MANE Select | ENSP00000176183.5:p.Cys290= | |
| ENST00000176183.5:c.870C>T | ENSP00000176183.5:p.Cys290= | |
| NM_000797.3:c.870C>T | NP_000788.2:p.Cys290= | |
| NM_000797.4:c.870C>T MANE Select | NP_000788.2:p.Cys290= |