gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069213 (NFE)
Genomes Max Group AF
0.00035412 (NFE)
Exomes Max Group AF
0.00070568 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44531087G>A , CM000683.2:g.44531087G>A | GRCh38 |
| NC_000021.8:g.45950970G>A , CM000683.1:g.45950970G>A | GRCh37 |
| NC_000021.7:g.44775398G>A | NCBI36 |
| NG_033806.1:g.185492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323084.9:c.589C>T MANE Select | ENSP00000321987.4:p.Arg197Ter | |
| ENST00000642437.1:c.*534C>T | ENSP00000496535.1:n.*534C>T | |
| ENST00000323084.8:c.589C>T | ENSP00000321987.4:p.Arg197Ter | |
| ENST00000397916.1:c.385C>T | ENSP00000381012.1:p.Arg129Ter | |
| ENST00000613245.4:c.382-2536C>T | ENSP00000478010.1:n.382-2536C>T | |
| ENST00000614657.4:c.385C>T | ENSP00000482422.1:p.Arg129Ter | |
| NM_001272037.1:c.385C>T | NP_001258966.1:p.Arg129Ter | |
| NM_144991.2:c.589C>T | NP_659428.2:p.Arg197Ter | |
| NM_144991.3:c.589C>T MANE Select | NP_659428.2:p.Arg197Ter | |
| NM_001272037.2:c.385C>T | NP_001258966.1:p.Arg129Ter |