COSMIC:
COSM147180 (not active)
Revel Score:
ENST00000311907 (MANE Select)
0.053
ENST00000530231
0.053
ENST00000442468
0.053
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59862021 (EAS)
Genomes Max Group AF
0.5732966 (EAS)
Exomes Max Group AF
0.6000187 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46723453C>T , CM000673.2:g.46723453C>T | GRCh38 |
| NC_000011.9:g.46745003C>T , CM000673.1:g.46745003C>T | GRCh37 |
| NC_000011.8:g.46701579C>T | NCBI36 |
| NG_008953.1:g.9261C>T , LRG_551:g.9261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.494C>T MANE Select | ENSP00000308541.5:p.Thr165Met | |
| ENST00000311907.9:c.494C>T | ENSP00000308541.5:p.Thr165Met | |
| ENST00000442468.1:c.464C>T | ENSP00000387413.1:p.Thr155Met | |
| ENST00000490274.1:n.274C>T | ||
| ENST00000530231.5:c.494C>T | ENSP00000433907.1:p.Thr165Met | |
| NM_000506.3:c.494C>T | NP_000497.1:p.Thr165Met | |
| NM_000506.4:c.494C>T , LRG_551t1:c.494C>T | NP_000497.1:p.Thr165Met | |
| NM_001311257.1:c.446C>T | NP_001298186.1:p.Thr149Met | |
| XR_428840.2:n.538C>T | ||
| XR_428840.4:n.529C>T | ||
| NM_000506.5:c.494C>T MANE Select | NP_000497.1:p.Thr165Met | |
| NM_001311257.2:c.446C>T | NP_001298186.1:p.Thr149Met |