COSMIC:
COSM4162250 (not active)
Revel Score:
ENST00000545032
0.017
ENST00000275521
0.017
ENST00000381083
0.017
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75198862 (EAS)
Genomes Max Group AF
0.73151942 (EAS)
Exomes Max Group AF
0.75285962 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45921046G>C , CM000669.2:g.45921046G>C | GRCh38 |
| NC_000007.13:g.45960645G>C , CM000669.1:g.45960645G>C | GRCh37 |
| NC_000007.12:g.45927170G>C | NCBI36 |
| NG_011508.1:g.5227C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613132.5:c.95C>G MANE Select | ENSP00000477772.2:p.Ala32Gly | |
| ENST00000381083.9:c.95C>G | ENSP00000370473.4:p.Ala32Gly | |
| ENST00000275521.10:c.95C>G | ENSP00000275521.5:p.Ala32Gly | |
| ENST00000381083.8:c.95C>G | ENSP00000370473.4:p.Ala32Gly | |
| ENST00000381086.9:c.9+86C>G | ENSP00000370476.4:n.9+86C>G | |
| ENST00000448817.1:c.73+581C>G | ENSP00000389668.1:n.73+581C>G | |
| ENST00000613132.4:c.49-17C>G | ENSP00000477772.1:n.49-17C>G | |
| ENST00000615754.4:c.34-18C>G | ENSP00000480717.1:n.34-18C>G | |
| NM_000598.4:c.95C>G | NP_000589.2:p.Ala32Gly | |
| NM_001013398.1:c.95C>G | NP_001013416.1:p.Ala32Gly | |
| NM_001013398.2:c.95C>G | NP_001013416.1:p.Ala32Gly | |
| NM_000598.5:c.95C>G MANE Select | NP_000589.2:p.Ala32Gly |