COSMIC:
COSM3752377 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02376464 (SAS)
Genomes Max Group AF
0.02086103 (SAS)
Exomes Max Group AF
0.02375081 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726112C>T , CM000673.2:g.46726112C>T | GRCh38 |
| NC_000011.9:g.46747662C>T , CM000673.1:g.46747662C>T | GRCh37 |
| NC_000011.8:g.46704238C>T | NCBI36 |
| NG_008953.1:g.11920C>T , LRG_551:g.11920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.813C>T MANE Select | ENSP00000308541.5:p.Gly271= | |
| ENST00000311907.9:c.813C>T | ENSP00000308541.5:p.Gly271= | |
| ENST00000442468.1:c.783C>T | ENSP00000387413.1:p.Gly261= | |
| ENST00000530231.5:c.813C>T | ENSP00000433907.1:p.Gly271= | |
| NM_000506.3:c.813C>T | NP_000497.1:p.Gly271= | |
| NM_000506.4:c.813C>T , LRG_551t1:c.813C>T | NP_000497.1:p.Gly271= | |
| NM_001311257.1:c.765C>T | NP_001298186.1:p.Gly255= | |
| XR_428840.2:n.857C>T | ||
| XR_428840.4:n.848C>T | ||
| NM_000506.5:c.813C>T MANE Select | NP_000497.1:p.Gly271= | |
| NM_001311257.2:c.765C>T | NP_001298186.1:p.Gly255= |