COSMIC:
COSM5020582 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02185499 (NFE)
Genomes Max Group AF
0.02048193 (NFE)
Exomes Max Group AF
0.02189002 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97573863C>T , CM000663.2:g.97573863C>T | GRCh38 |
| NC_000001.10:g.98039419C>T , CM000663.1:g.98039419C>T | GRCh37 |
| NC_000001.9:g.97812007C>T | NCBI36 |
| NG_008807.2:g.352197G>A , LRG_722:g.352197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1236G>A MANE Select | ENSP00000359211.3:p.Glu412= | |
| ENST00000370192.7:c.1236G>A | ENSP00000359211.3:p.Glu412= | |
| NM_000110.3:c.1236G>A , LRG_722t1:c.1236G>A | NP_000101.2:p.Glu412= | |
| XM_005270562.3:c.1236G>A | XP_005270619.2:p.Glu412= | |
| XM_006710397.2:c.1236G>A | XP_006710460.1:p.Glu412= | |
| XM_006710397.3:c.1236G>A | XP_006710460.1:p.Glu412= | |
| XM_017000507.1:c.1125G>A | XP_016855996.1:p.Glu375= | |
| XM_017000508.2:c.741G>A | XP_016855997.1:p.Glu247= | |
| XM_017000509.2:c.741G>A | XP_016855998.1:p.Glu247= | |
| XM_017000510.1:c.741G>A | XP_016855999.1:p.Glu247= | |
| NM_000110.4:c.1236G>A MANE Select | NP_000101.2:p.Glu412= |