COSMIC:
COSN6477696 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76654006 (AFR)
Genomes Max Group AF
0.76667062 (AFR)
Exomes Max Group AF
0.74790995 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26216567A>G , CM000672.2:g.26216567A>G | GRCh38 |
| NC_000010.10:g.26505496A>G , CM000672.1:g.26505496A>G | GRCh37 |
| NC_000010.9:g.26545502A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376261.7:c.-243A>G | ENSP00000365437.3:n.-243A>G | |
| NM_000818.2:c.-243A>G | NP_000809.1:n.-243A>G | |
| NM_001134366.1:c.-243A>G | NP_001127838.1:n.-243A>G | |
| NM_000818.3:c.-243A>G | NP_000809.1:n.-243A>G |