COSMIC:
COSM3751207 (not active)
COSM3751208 (not active)
COSM3751209 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2953861 (AMR)
Genomes Max Group AF
0.27954609 (EAS)
Exomes Max Group AF
0.29903187 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943295G>A , CM000663.2:g.42943295G>A | GRCh38 |
| NC_000001.10:g.43408966G>A , CM000663.1:g.43408966G>A | GRCh37 |
| NC_000001.9:g.43181553G>A | NCBI36 |
| NG_008232.1:g.20882C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.45C>T MANE Select | ENSP00000416293.2:p.Ala15= | |
| ENST00000674765.1:c.45C>T | ENSP00000501811.1:p.Ala15= | |
| ENST00000675112.1:n.68C>T | ||
| ENST00000372500.4:c.19-12089C>T | ENSP00000361578.4:n.19-12089C>T | |
| ENST00000415851.6:n.262C>T | ||
| ENST00000426263.7:c.45C>T | ENSP00000416293.2:p.Ala15= | |
| ENST00000625233.2:n.253C>T | ||
| ENST00000628173.1:n.264C>T | ||
| ENST00000630287.2:c.45C>T | ENSP00000486694.1:p.Ala15= | |
| ENST00000630821.1:n.262C>T | ||
| NM_006516.2:c.45C>T | NP_006507.2:p.Ala15= | |
| NM_006516.3:c.45C>T | NP_006507.2:p.Ala15= | |
| NM_006516.4:c.45C>T MANE Select | NP_006507.2:p.Ala15= |