COSMIC:
COSM3999547 (not active)
Revel Score:
ENST00000260324 (MANE Select)
0.141
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42690926 (EAS)
Genomes Max Group AF
0.41094464 (EAS)
Exomes Max Group AF
0.42739373 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45676237T>C , CM000677.2:g.45676237T>C | GRCh38 |
| NC_000015.9:g.45968435T>C , CM000677.1:g.45968435T>C | GRCh37 |
| NC_000015.8:g.43755727T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260324.12:c.791T>C MANE Select | ENSP00000260324.7:p.Ile264Thr | |
| ENST00000260324.11:c.791T>C | ENSP00000260324.7:p.Ile264Thr | |
| ENST00000564080.1:c.791T>C | ENSP00000455047.1:p.Ile264Thr | |
| ENST00000568606.5:c.791T>C | ENSP00000456019.1:p.Ile264Thr | |
| NM_001271213.1:c.791T>C | NP_001258142.1:p.Ile264Thr | |
| NM_021199.3:c.791T>C | NP_067022.1:p.Ile264Thr | |
| XR_932191.1:n.313-992A>G | ||
| NM_021199.4:c.791T>C MANE Select | NP_067022.1:p.Ile264Thr | |
| NM_001271213.2:c.791T>C | NP_001258142.1:p.Ile264Thr |