gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526505C>T , CM000681.2:g.7526505C>T | GRCh38 |
| NC_000019.9:g.7591391C>T , CM000681.1:g.7591391C>T | GRCh37 |
| NC_000019.8:g.7497391C>T | NCBI36 |
| NG_015806.1:g.8896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.304C>T MANE Select | ENSP00000264079.5:p.Arg102Ter | |
| ENST00000264079.10:c.304C>T | ENSP00000264079.5:p.Arg102Ter | |
| ENST00000394321.9:n.384C>T | ||
| ENST00000596008.1:n.266C>T | ||
| ENST00000598406.1:n.125C>T | ||
| ENST00000601003.1:c.304C>T | ENSP00000469074.1:p.Arg102Ter | |
| NM_020533.2:c.304C>T | NP_065394.1:p.Arg102Ter | |
| NM_020533.3:c.304C>T MANE Select | NP_065394.1:p.Arg102Ter |