COSMIC:
COSM4413081 (not active)
Revel Score:
ENST00000471660
0.346
ENST00000263780 (MANE Select)
0.346
ENST00000494980
0.346
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00038757 (AMR)
Genomes Max Group AF
0.00076073 (AMR)
Exomes Max Group AF
0.00018893 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87245805C>T , CM000665.2:g.87245805C>T | GRCh38 |
| NC_000003.11:g.87294955C>T , CM000665.1:g.87294955C>T | GRCh37 |
| NC_000003.10:g.87377645C>T | NCBI36 |
| NG_007885.1:g.23543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.218C>T MANE Select | ENSP00000263780.4:p.Thr73Met | |
| ENST00000472024.3:c.266C>T | ENSP00000480032.2:p.Thr89Met | |
| ENST00000676705.1:c.266C>T | ENSP00000504098.1:p.Thr89Met | |
| ENST00000676947.1:n.371C>T | ||
| ENST00000677929.1:n.456C>T | ||
| ENST00000678818.1:n.1063-610C>T | ||
| ENST00000678859.1:n.541C>T | ||
| ENST00000263780.8:c.218C>T | ENSP00000263780.4:p.Thr73Met | |
| ENST00000471660.5:c.95C>T | ENSP00000419998.1:p.Thr32Met | |
| ENST00000472024.2:c.266C>T | ENSP00000480032.1:p.Thr89Met | |
| ENST00000494980.5:c.218C>T | ENSP00000418920.1:p.Thr73Met | |
| NM_001244644.1:c.95C>T | NP_001231573.1:p.Thr32Met | |
| NM_014043.3:c.218C>T | NP_054762.2:p.Thr73Met | |
| XM_011533576.1:c.266C>T | XP_011531878.1:p.Thr89Met | |
| XM_011533576.2:c.266C>T | XP_011531878.1:p.Thr89Met | |
| NM_014043.4:c.218C>T MANE Select | NP_054762.2:p.Thr73Met | |
| NM_001244644.2:c.95C>T | NP_001231573.1:p.Thr32Met |