gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001065 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618134C>T , CM000667.2:g.132618134C>T | GRCh38 |
| NC_000005.9:g.131953826C>T , CM000667.1:g.131953826C>T | GRCh37 |
| NC_000005.8:g.131981725C>T | NCBI36 |
| NG_021151.1:g.66211C>T | |
| NG_021151.2:g.66158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3229C>T MANE Select | ENSP00000368100.4:p.Arg1077Ter | |
| ENST00000638452.2:c.2932C>T | ENSP00000492349.2:p.Arg978Ter | |
| ENST00000638504.1:n.2837C>T | ||
| ENST00000638568.2:c.2932C>T | ENSP00000491158.2:p.Arg978Ter | |
| ENST00000639899.1:n.3748C>T | ||
| ENST00000640655.2:c.2932C>T | ENSP00000491596.2:p.Arg978Ter | |
| ENST00000651249.1:c.65C>T | ||
| ENST00000378823.7:c.3229C>T | ENSP00000368100.4:p.Arg1077Ter | |
| ENST00000533482.5:c.*2855C>T | ENSP00000431225.1:n.*2855C>T | |
| NM_005732.3:c.3229C>T | NP_005723.2:p.Arg1077Ter | |
| NM_005732.4:c.3229C>T MANE Select | NP_005723.2:p.Arg1077Ter |