gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Genomes Max Group AF
0.00006855 (EAS)
Exomes Max Group AF
0.00002375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23524416C>T , CM000667.2:g.23524416C>T | GRCh38 |
| NC_000005.9:g.23524525C>T , CM000667.1:g.23524525C>T | GRCh37 |
| NC_000005.8:g.23560282C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502755.6:c.1033C>T | ENSP00000425471.2:p.Arg345Ter | |
| ENST00000296682.4:c.1033C>T MANE Select | ENSP00000296682.4:p.Arg345Ter | |
| ENST00000296682.3:c.1033C>T | ENSP00000296682.3:p.Arg345Ter | |
| ENST00000635252.1:c.856C>T | ENSP00000489227.1:p.Arg286Ter | |
| NM_020227.2:c.1033C>T | NP_064612.2:p.Arg345Ter | |
| NM_020227.3:c.1033C>T | NP_064612.2:p.Arg345Ter | |
| NM_001376900.1:c.1033C>T | NP_001363829.1:p.Arg345Ter | |
| NM_020227.4:c.1033C>T MANE Select | NP_064612.2:p.Arg345Ter |