COSMIC:
COSN6660800 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60657927 (NFE)
Genomes Max Group AF
0.60908826 (NFE)
Exomes Max Group AF
0.6039034 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7514346C>T , CM000679.2:g.7514346C>T | GRCh38 |
| NC_000017.10:g.7417663C>T , CM000679.1:g.7417663C>T | GRCh37 |
| NC_000017.9:g.7358387C>T | NCBI36 |
| NG_027747.1:g.34966C>T | |
| NG_027747.2:g.34966C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.6481C>T | ||
| ENST00000617998.4:c.*139C>T | ENSP00000480158.1:n.*139C>T | |
| ENST00000621442.4:c.*167C>T | ENSP00000483957.1:n.*167C>T | |
| NM_000937.4:c.*167C>T | NP_000928.1:n.*167C>T | |
| NM_000937.5:c.*167C>T MANE Select | NP_000928.1:n.*167C>T |