COSMIC:
COSN18900896 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46205846 (AFR)
Genomes Max Group AF
0.46205846 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154027674A>G , CM000668.2:g.154027674A>G | GRCh38 |
| NC_000006.11:g.154348809A>G , CM000668.1:g.154348809A>G | GRCh37 |
| NC_000006.10:g.154390502A>G | NCBI36 |
| NG_021208.1:g.22174A>G | |
| NG_021208.2:g.22174A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434900.6:c.1-11487A>G | ENSP00000394624.2:n.1-11487A>G | |
| ENST00000518759.5:c.47+17115A>G | ENSP00000430260.1:n.47+17115A>G | |
| ENST00000520282.5:c.11-11737A>G | ENSP00000430247.1:n.11-11737A>G | |
| ENST00000520708.5:c.-11+16656A>G | ENSP00000430876.1:n.-11+16656A>G | |
| NM_001145279.3:c.1-11487A>G | NP_001138751.1:n.1-11487A>G | |
| NM_001145280.3:c.-11+16656A>G | NP_001138752.1:n.-11+16656A>G | |
| NM_001145281.2:c.47+17115A>G | NP_001138753.1:n.47+17115A>G | |
| XM_011535849.1:c.1-11487A>G | XP_011534151.1:n.1-11487A>G | |
| NM_001145279.4:c.1-11487A>G | NP_001138751.1:n.1-11487A>G | |
| NM_001145280.4:c.-11+16656A>G | NP_001138752.1:n.-11+16656A>G | |
| NM_001145281.3:c.47+17115A>G | NP_001138753.1:n.47+17115A>G |