COSMIC:
COSN16498676 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77639913 (AFR)
Genomes Max Group AF
0.77639913 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25998758A>G , CM000684.2:g.25998758A>G | GRCh38 |
| NC_000022.10:g.26394724A>G , CM000684.1:g.26394724A>G | GRCh37 |
| NC_000022.9:g.24724724A>G | NCBI36 |
| NG_046772.1:g.261615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335473.12:c.6288-4507A>G MANE Select | ENSP00000334563.8:n.6288-4507A>G | |
| ENST00000335473.11:c.6288-4507A>G | ENSP00000334563.7:n.6288-4507A>G | |
| ENST00000407587.6:c.6291-4507A>G | ENSP00000386096.2:n.6291-4507A>G | |
| ENST00000418374.6:n.4859-4507A>G | ||
| ENST00000536101.5:c.6288-4507A>G | ENSP00000441229.1:n.6288-4507A>G | |
| ENST00000539302.5:c.*3746-4507A>G | ENSP00000437587.1:n.*3746-4507A>G | |
| ENST00000543971.1:c.182-5960A>G | ||
| NM_032608.5:c.6288-4507A>G | NP_115997.5:n.6288-4507A>G | |
| XM_005261786.3:c.6291-4507A>G | XP_005261843.1:n.6291-4507A>G | |
| XM_011530458.1:c.6417-4507A>G | XP_011528760.1:n.6417-4507A>G | |
| XM_011530459.1:c.6417-4507A>G | XP_011528761.1:n.6417-4507A>G | |
| XM_011530460.1:c.6417-4507A>G | XP_011528762.1:n.6417-4507A>G | |
| XM_011530461.1:c.6417-4507A>G | XP_011528763.1:n.6417-4507A>G | |
| XM_011530462.1:c.6417-4507A>G | XP_011528764.1:n.6417-4507A>G | |
| XM_011530463.1:c.6417-4507A>G | XP_011528765.1:n.6417-4507A>G | |
| XM_011530464.1:c.6414-4507A>G | XP_011528766.1:n.6414-4507A>G | |
| XM_011530465.1:c.5934-4507A>G | XP_011528767.1:n.5934-4507A>G | |
| NM_001318245.1:c.6291-4507A>G | NP_001305174.1:n.6291-4507A>G | |
| NM_032608.6:c.6288-4507A>G | NP_115997.5:n.6288-4507A>G | |
| XM_011530458.2:c.6417-4507A>G | XP_011528760.1:n.6417-4507A>G | |
| XM_011530459.2:c.6417-4507A>G | XP_011528761.1:n.6417-4507A>G | |
| XM_011530460.2:c.6417-4507A>G | XP_011528762.1:n.6417-4507A>G | |
| XM_011530461.2:c.6417-4507A>G | XP_011528763.1:n.6417-4507A>G | |
| XM_011530464.2:c.6414-4507A>G | XP_011528766.1:n.6414-4507A>G | |
| XM_011530465.2:c.5934-4507A>G | XP_011528767.1:n.5934-4507A>G | |
| XM_017029012.1:c.6417-4507A>G | XP_016884501.1:n.6417-4507A>G | |
| XM_017029013.1:c.6417-4507A>G | XP_016884502.1:n.6417-4507A>G | |
| XM_017029014.1:c.6414-4507A>G | XP_016884503.1:n.6414-4507A>G | |
| XM_017029015.1:c.6285-4507A>G | XP_016884504.1:n.6285-4507A>G | |
| XM_017029016.1:c.3753-4507A>G | XP_016884505.1:n.3753-4507A>G | |
| XM_017029017.1:c.3750-4507A>G | XP_016884506.1:n.3750-4507A>G | |
| NM_001318245.2:c.6291-4507A>G | NP_001305174.1:n.6291-4507A>G | |
| NM_032608.7:c.6288-4507A>G MANE Select | NP_115997.5:n.6288-4507A>G |