COSMIC:
COSM5070776 (not active)
Revel Score:
ENST00000300527 (MANE Select)
0.706
ENST00000357838
0.706
ENST00000310645
0.706
ENST00000409416
0.706
ENST00000397763 (MANE Plus Clinical)
0.706
ENST00000413758
0.706
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00286688 (NFE)
Genomes Max Group AF
0.00255039 (NFE)
Exomes Max Group AF
0.0028688 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46124919C>T , CM000683.2:g.46124919C>T | GRCh38 |
| NC_000021.8:g.47544833C>T , CM000683.1:g.47544833C>T | GRCh37 |
| NC_000021.7:g.46369261C>T | NCBI36 |
| NG_008675.1:g.31801C>T , LRG_476:g.31801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.1769C>T MANE Plus Clinical | ENSP00000380870.1:p.Thr590Met | |
| ENST00000300527.9:c.1769C>T MANE Select | ENSP00000300527.4:p.Thr590Met | |
| ENST00000409416.6:c.1769C>T | ENSP00000387115.1:p.Thr590Met | |
| ENST00000300527.8:c.1769C>T | ENSP00000300527.4:p.Thr590Met | |
| ENST00000310645.9:c.1769C>T | ENSP00000312529.5:p.Thr590Met | |
| ENST00000397763.5:c.1769C>T | ENSP00000380870.1:p.Thr590Met | |
| ENST00000409416.5:c.1769C>T | ENSP00000387115.1:p.Thr590Met | |
| ENST00000413758.1:c.392C>T | ENSP00000395751.1:p.Thr131Met | |
| NM_001849.3:c.1769C>T , LRG_476t1:c.1769C>T | NP_001840.3:p.Thr590Met | |
| NM_058174.2:c.1769C>T | NP_478054.2:p.Thr590Met | |
| NM_058175.2:c.1769C>T | NP_478055.2:p.Thr590Met | |
| XM_011529451.1:c.1769C>T | XP_011527753.1:p.Thr590Met | |
| XM_011529452.1:c.1769C>T | XP_011527754.1:p.Thr590Met | |
| XR_937438.1:n.1892C>T | ||
| XR_937439.1:n.1892C>T | ||
| XR_937438.2:n.1899C>T | ||
| XR_937439.2:n.1899C>T | ||
| NM_001849.4:c.1769C>T MANE Select | NP_001840.3:p.Thr590Met | |
| NM_058174.3:c.1769C>T MANE Plus Clinical | NP_478054.2:p.Thr590Met | |
| NM_058175.3:c.1769C>T | NP_478055.2:p.Thr590Met |