COSMIC:
COSM4160685
COSM4160686
COSM4160687
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077704 (SAS)
Genomes Max Group AF
0.0000731 (AFR)
Exomes Max Group AF
0.00104777 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269994G>A , CM000668.2:g.31269994G>A | GRCh38 |
| NC_000006.11:g.31237771G>A , CM000668.1:g.31237771G>A | GRCh37 |
| NC_000006.10:g.31345750G>A | NCBI36 |
| NG_029422.2:g.7138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.987C>T MANE Select | ENSP00000365402.5:p.Thr329= | |
| ENST00000376228.9:c.987C>T | ENSP00000365402.5:p.Thr329= | |
| ENST00000376237.8:c.*574C>T | ENSP00000365412.4:n.*574C>T | |
| ENST00000383329.7:c.987C>T | ENSP00000372819.3:p.Thr329= | |
| ENST00000470363.5:n.305C>T | ||
| ENST00000487245.5:n.1346C>T | ||
| NM_002117.5:c.987C>T | NP_002108.4:p.Thr329= | |
| NM_002117.6:c.987C>T MANE Select | NP_002108.4:p.Thr329= |