COSMIC:
COSN6458009 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82369481 (EAS)
Genomes Max Group AF
0.80016873 (EAS)
Exomes Max Group AF
0.824555 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46408711A>G , CM000663.2:g.46408711A>G | GRCh38 |
| NC_000001.10:g.46874383A>G , CM000663.1:g.46874383A>G | GRCh37 |
| NC_000001.9:g.46646970A>G | NCBI36 |
| NG_012195.1:g.19445A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243167.9:c.1077+127A>G MANE Select | ENSP00000243167.8:n.1077+127A>G | |
| ENST00000243167.8:c.1077+127A>G | ENSP00000243167.8:n.1077+127A>G | |
| ENST00000484697.5:c.198+127A>G | ||
| ENST00000489366.2:n.292+127A>G | ||
| ENST00000493735.5:n.1298+127A>G | ||
| NM_001441.2:c.1077+127A>G | NP_001432.2:n.1077+127A>G | |
| NM_001441.3:c.1077+127A>G MANE Select | NP_001432.2:n.1077+127A>G |