COSMIC:
COSM1608821 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012339 (NFE)
Genomes Max Group AF
0.00010394 (AFR)
Exomes Max Group AF
0.00012068 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776954A>G , CM000677.2:g.89776954A>G | GRCh38 |
| NC_000015.9:g.90320185A>G , CM000677.1:g.90320185A>G | GRCh37 |
| NC_000015.8:g.88121189A>G | NCBI36 |
| NG_008608.1:g.5597A>G | |
| NG_008608.2:g.21364A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.597A>G MANE Select | ENSP00000342392.3:p.Gly199= | |
| ENST00000341735.3:c.597A>G | ENSP00000342392.3:p.Gly199= | |
| ENST00000558723.1:n.39-1111A>G | ||
| ENST00000560219.2:c.31-1111A>G | ENSP00000452998.1:n.31-1111A>G | |
| NM_001039958.1:c.597A>G | NP_001035047.1:p.Gly199= | |
| NM_001039958.2:c.597A>G MANE Select | NP_001035047.1:p.Gly199= |