COSMIC:
COSM4987150 (not active)
COSM4987151 (not active)
Revel Score:
ENST00000398606 (MANE Select)
0.086
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08409103 (NFE)
Genomes Max Group AF
0.08263368 (NFE)
Exomes Max Group AF
0.08408208 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586108C>T , CM000673.2:g.67586108C>T | GRCh38 |
| NC_000011.9:g.67353579C>T , CM000673.1:g.67353579C>T | GRCh37 |
| NC_000011.8:g.67110155C>T | NCBI36 |
| NG_012075.1:g.7514C>T , LRG_723:g.7514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-281C>T | ENSP00000381604.1:n.337-281C>T | |
| ENST00000398606.10:c.341C>T MANE Select | ENSP00000381607.3:p.Ala114Val | |
| ENST00000646888.1:c.*57C>T | ENSP00000494477.1:n.*57C>T | |
| ENST00000398603.5:c.337-281C>T | ENSP00000381604.1:n.337-281C>T | |
| ENST00000398606.7:c.341C>T | ENSP00000381607.3:p.Ala114Val | |
| ENST00000467591.1:n.452C>T | ||
| ENST00000494593.1:n.1136C>T | ||
| ENST00000495996.1:c.5C>T | ENSP00000484686.1:p.Ala2Val | |
| ENST00000498765.5:c.404C>T | ||
| NM_000852.3:c.341C>T , LRG_723t1:c.341C>T | NP_000843.1:p.Ala114Val | |
| NM_000852.4:c.341C>T MANE Select | NP_000843.1:p.Ala114Val |