gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002988 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97584911C>T , CM000672.2:g.97584911C>T | GRCh38 |
| NC_000010.10:g.99344668C>T , CM000672.1:g.99344668C>T | GRCh37 |
| NC_000010.9:g.99334658C>T | NCBI36 |
| NG_027922.1:g.5567C>T | |
| NG_034079.1:g.17471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.208C>T MANE Select | ENSP00000359680.4:p.Arg70Ter | |
| ENST00000370646.8:c.208C>T | ENSP00000359680.4:p.Arg70Ter | |
| ENST00000370647.8:c.208C>T | ENSP00000359681.4:p.Arg70Ter | |
| ENST00000370649.3:c.208C>T | ENSP00000359683.3:p.Arg70Ter | |
| ENST00000465608.1:n.589C>T | ||
| NM_001134670.1:c.208C>T | NP_001128142.1:p.Arg70Ter | |
| NM_138413.3:c.208C>T | NP_612422.2:p.Arg70Ter | |
| NM_138413.4:c.208C>T MANE Select | NP_612422.2:p.Arg70Ter | |
| NM_001134670.2:c.208C>T | NP_001128142.1:p.Arg70Ter |