COSMIC:
COSM3765558 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38473873 (EAS)
Genomes Max Group AF
0.34464423 (EAS)
Exomes Max Group AF
0.38847941 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20601477C>T , CM000673.2:g.20601477C>T | GRCh38 |
| NC_000011.9:g.20623023C>T , CM000673.1:g.20623023C>T | GRCh37 |
| NC_000011.8:g.20579599C>T | NCBI36 |
| NG_013086.1:g.7078C>T | |
| NG_013086.2:g.7078C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.352C>T MANE Select | ENSP00000434364.2:p.Leu118= | |
| ENST00000298923.11:c.352C>T | ENSP00000298923.7:p.Leu118= | |
| ENST00000525748.5:c.352C>T | ENSP00000434364.1:p.Leu118= | |
| NM_004211.3:c.352C>T | NP_004202.2:p.Leu118= | |
| XM_005253225.1:c.-212C>T | XP_005253282.1:n.-212C>T | |
| XM_011520473.1:c.352C>T | XP_011518775.1:p.Leu118= | |
| NM_001318369.1:c.-212C>T | NP_001305298.1:n.-212C>T | |
| NM_004211.4:c.352C>T | NP_004202.3:p.Leu118= | |
| XM_017018545.2:c.-57+1802C>T | XP_016874034.1:n.-57+1802C>T | |
| NM_001318369.2:c.-212C>T | NP_001305298.1:n.-212C>T | |
| NM_004211.5:c.352C>T MANE Select | NP_004202.4:p.Leu118= |