gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003069 (NFE)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00003171 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57459583C>T , CM000678.2:g.57459583C>T | GRCh38 |
| NC_000016.9:g.57493495C>T , CM000678.1:g.57493495C>T | GRCh37 |
| NC_000016.8:g.56050996C>T | NCBI36 |
| NG_027696.1:g.17159C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.730C>T MANE Select | ENSP00000262507.5:p.Arg244Ter | |
| ENST00000262507.10:c.730C>T | ENSP00000262507.5:p.Arg244Ter | |
| ENST00000563166.1:c.304-1589C>T | ENSP00000455495.1:n.304-1589C>T | |
| ENST00000564115.5:c.*78C>T | ENSP00000455256.1:n.*78C>T | |
| ENST00000564655.5:c.742C>T | ENSP00000454992.1:p.Arg248Ter | |
| ENST00000565964.5:c.502C>T | ENSP00000458023.1:p.Arg168Ter | |
| ENST00000567072.5:c.625C>T | ENSP00000456728.1:p.Arg209Ter | |
| ENST00000567933.5:c.397C>T | ENSP00000456174.1:p.Arg133Ter | |
| ENST00000569980.1:n.245C>T | ||
| NM_020312.3:c.730C>T | NP_064708.1:p.Arg244Ter | |
| NM_020312.4:c.730C>T MANE Select | NP_064708.1:p.Arg244Ter |