gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003666 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00003631 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528057C>T , CM000668.2:g.24528057C>T | GRCh38 |
| NC_000006.11:g.24528285C>T , CM000668.1:g.24528285C>T | GRCh37 |
| NC_000006.10:g.24636264C>T | NCBI36 |
| NG_008161.1:g.38089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1234C>T MANE Select | ENSP00000350191.3:p.Arg412Ter | |
| ENST00000479394.2:n.349C>T | ||
| ENST00000672352.1:c.853C>T | ENSP00000500876.1:p.Arg285Ter | |
| ENST00000672652.1:c.1197C>T | ||
| ENST00000348925.2:c.1273C>T | ENSP00000314649.3:p.Arg425Ter | |
| ENST00000357578.7:c.1234C>T | ENSP00000350191.3:p.Arg412Ter | |
| ENST00000479394.1:n.349C>T | ||
| ENST00000491546.5:c.1150C>T | ENSP00000417687.1:p.Arg384Ter | |
| NM_001080.3:c.1234C>T MANE Select | NP_001071.1:p.Arg412Ter | |
| NM_170740.1:c.1273C>T | NP_733936.1:p.Arg425Ter | |
| NM_001368954.1:c.1090C>T | NP_001355883.1:p.Arg364Ter |