COSMIC:
COSM436144 (not active)
Revel Score:
ENST00000205890
0.347
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41969221 (NFE)
Genomes Max Group AF
0.41351965 (NFE)
Exomes Max Group AF
0.41985072 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18153853A>T , CM000679.2:g.18153853A>T | GRCh38 |
| NC_000017.10:g.18057167A>T , CM000679.1:g.18057167A>T | GRCh37 |
| NC_000017.9:g.17997892A>T | NCBI36 |
| NG_011634.1:g.50148A>T | |
| NG_011634.2:g.50148A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644795.1:c.-164A>T | ENSP00000495720.1:n.-164A>T | |
| ENST00000646782.1:n.200A>T | ||
| ENST00000647165.2:c.8045A>T MANE Select | ENSP00000495481.1:p.Tyr2682Phe | |
| ENST00000651214.1:n.191A>T | ||
| ENST00000205890.9:c.8045A>T | ENSP00000205890.5:p.Tyr2682Phe | |
| ENST00000418233.7:c.-164A>T | ENSP00000408800.3:n.-164A>T | |
| ENST00000615845.4:c.8045A>T | ENSP00000481642.1:p.Tyr2682Phe | |
| NM_016239.3:c.8045A>T | NP_057323.3:p.Tyr2682Phe | |
| XM_011523921.1:c.8039A>T | XP_011522223.1:p.Tyr2680Phe | |
| XM_017024714.2:c.7985A>T | XP_016880203.1:p.Tyr2662Phe | |
| XM_017024715.2:c.8048A>T | XP_016880204.1:p.Tyr2683Phe | |
| XR_001752809.1:n.329T>A | ||
| XR_001752810.1:n.372T>A | ||
| NM_016239.4:c.8045A>T MANE Select | NP_057323.3:p.Tyr2682Phe |