COSMIC:
COSN26634191 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44295845 (EAS)
Genomes Max Group AF
0.44295845 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.54154874T>C , CM000680.2:g.54154874T>C | GRCh38 |
| NC_000018.9:g.51681244T>C , CM000680.1:g.51681244T>C | GRCh37 |
| NC_000018.8:g.49935242T>C | NCBI36 |
| NG_029550.1:g.74915A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256429.8:c.*450A>G MANE Select | ENSP00000256429.3:n.*450A>G | |
| ENST00000256429.7:c.*450A>G | ENSP00000256429.3:n.*450A>G | |
| NM_003927.4:c.*450A>G | NP_003918.1:n.*450A>G | |
| NM_003927.5:c.*450A>G MANE Select | NP_003918.1:n.*450A>G |