COSMIC:
COSM4143014 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6000855 (EAS)
Genomes Max Group AF
0.63375043 (EAS)
Exomes Max Group AF
0.59379982 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169560588C>A , CM000663.2:g.169560588C>A | GRCh38 |
| NC_000001.10:g.169529826C>A , CM000663.1:g.169529826C>A | GRCh37 |
| NC_000001.9:g.167796450C>A | NCBI36 |
| NG_011806.1:g.30944G>T , LRG_553:g.30944G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.552G>T MANE Select | ENSP00000356771.3:p.Ser184= | |
| ENST00000367796.3:c.552G>T | ENSP00000356770.3:p.Ser184= | |
| ENST00000367797.7:c.552G>T | ENSP00000356771.3:p.Ser184= | |
| NM_000130.4:c.552G>T , LRG_553t1:c.552G>T | NP_000121.2:p.Ser184= | |
| XM_017000660.2:c.141G>T | XP_016856149.1:p.Ser47= | |
| NM_000130.5:c.552G>T MANE Select | NP_000121.2:p.Ser184= |