COSMIC:
COSM3997295 (not active)
Revel Score:
ENST00000366794 (MANE Select)
0.180
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41631581 (EAS)
Genomes Max Group AF
0.41383056 (EAS)
Exomes Max Group AF
0.4150482 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226367601A>G , CM000663.2:g.226367601A>G | GRCh38 |
| NC_000001.10:g.226555302A>G , CM000663.1:g.226555302A>G | GRCh37 |
| NC_000001.9:g.224621925A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366794.10:c.2285T>C MANE Select | ENSP00000355759.5:p.Val762Ala | |
| ENST00000498787.2:n.2444T>C | ||
| ENST00000676565.1:n.2057T>C | ||
| ENST00000676685.1:n.2510T>C | ||
| ENST00000676709.1:n.2510T>C | ||
| ENST00000677091.1:c.*967T>C | ENSP00000504745.1:n.*967T>C | |
| ENST00000677189.1:n.338T>C | ||
| ENST00000677203.1:c.2156T>C | ENSP00000503396.1:p.Val719Ala | |
| ENST00000677374.1:n.3471T>C | ||
| ENST00000677884.1:n.3097T>C | ||
| ENST00000677985.1:n.275T>C | ||
| ENST00000678144.1:c.*1105T>C | ENSP00000504430.1:n.*1105T>C | |
| ENST00000678226.1:n.1264T>C | ||
| ENST00000678288.1:n.410T>C | ||
| ENST00000678560.1:c.*2273T>C | ENSP00000503293.1:n.*2273T>C | |
| ENST00000678781.1:n.2510T>C | ||
| ENST00000679276.1:n.2510T>C | ||
| ENST00000366794.9:c.2285T>C | ENSP00000355759.5:p.Val762Ala | |
| ENST00000490921.5:n.813T>C | ||
| ENST00000498787.1:n.341T>C | ||
| NM_001618.3:c.2285T>C | NP_001609.2:p.Val762Ala | |
| NM_001618.4:c.2285T>C MANE Select | NP_001609.2:p.Val762Ala |