COSMIC:
COSM5019240 (not active)
COSM5019241 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66185269 (EAS)
Genomes Max Group AF
0.66726982 (EAS)
Exomes Max Group AF
0.65913467 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30644922A>G , CM000665.2:g.30644922A>G | GRCh38 |
| NC_000003.11:g.30686414A>G , CM000665.1:g.30686414A>G | GRCh37 |
| NC_000003.10:g.30661418A>G | NCBI36 |
| NG_007490.1:g.43421A>G , LRG_779:g.43421A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.263+7A>G MANE Select | ENSP00000295754.5:n.263+7A>G | |
| ENST00000672866.1:n.1859+7A>G | ||
| ENST00000673250.1:n.387+7A>G | ||
| ENST00000295754.9:c.263+7A>G | ENSP00000295754.5:n.263+7A>G | |
| ENST00000359013.4:c.338+7A>G | ENSP00000351905.4:n.338+7A>G | |
| NM_001024847.2:c.338+7A>G , LRG_779t1:c.338+7A>G | NP_001020018.1:n.338+7A>G | |
| NM_003242.5:c.263+7A>G | NP_003233.4:n.263+7A>G | |
| XM_011534043.1:c.290+7A>G | XP_011532345.1:n.290+7A>G | |
| XM_011534044.1:c.215+7A>G | XP_011532346.1:n.215+7A>G | |
| XM_011534045.1:c.158+7A>G | XP_011532347.1:n.158+7A>G | |
| XM_011534043.2:c.290+7A>G | XP_011532345.1:n.290+7A>G | |
| XM_011534045.3:c.158+7A>G | XP_011532347.1:n.158+7A>G | |
| XM_017007106.1:c.158+7A>G | XP_016862595.1:n.158+7A>G | |
| NM_003242.6:c.263+7A>G MANE Select | NP_003233.4:n.263+7A>G |