COSMIC:
COSN6457099 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89993777 (AFR)
Genomes Max Group AF
0.89993777 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43664108A>G , CM000663.2:g.43664108A>G | GRCh38 |
| NC_000001.10:g.44129779A>G , CM000663.1:g.44129779A>G | GRCh37 |
| NC_000001.9:g.43902366A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372396.4:c.623+1021A>G MANE Select | ENSP00000361473.3:n.623+1021A>G | |
| ENST00000645057.1:c.623+1021A>G | ENSP00000494063.1:n.623+1021A>G | |
| ENST00000372396.3:c.623+1021A>G | ENSP00000361473.3:n.623+1021A>G | |
| ENST00000463151.5:n.801+1021A>G | ||
| ENST00000485249.1:n.630+1021A>G | ||
| NM_014663.2:c.623+1021A>G | NP_055478.2:n.623+1021A>G | |
| XM_005271354.2:c.623+1021A>G | XP_005271411.1:n.623+1021A>G | |
| XM_005271355.2:c.623+1021A>G | XP_005271412.1:n.623+1021A>G | |
| XM_005271356.2:c.350+1021A>G | XP_005271413.1:n.350+1021A>G | |
| XM_005271354.3:c.623+1021A>G | XP_005271411.1:n.623+1021A>G | |
| XM_005271355.3:c.623+1021A>G | XP_005271412.1:n.623+1021A>G | |
| NM_014663.3:c.623+1021A>G MANE Select | NP_055478.2:n.623+1021A>G |