COSMIC:
COSM3997842 (not active)
COSM3997843 (not active)
Revel Score:
ENST00000306010
0.053
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21318786 (AMR)
Genomes Max Group AF
0.18682666 (AMR)
Exomes Max Group AF
0.22075514 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129708019C>T , CM000672.2:g.129708019C>T | GRCh38 |
| NC_000010.10:g.131506283C>T , CM000672.1:g.131506283C>T | GRCh37 |
| NC_000010.9:g.131396273C>T | NCBI36 |
| NG_052673.1:g.245836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.343C>T | ENSP00000302111.7:p.Leu115Phe | |
| ENST00000651593.1:c.250C>T MANE Select | ENSP00000498729.1:p.Leu84Phe | |
| ENST00000306010.7:c.343C>T | ENSP00000302111.7:p.Leu115Phe | |
| ENST00000462672.1:n.411C>T | ||
| NM_002412.3:c.343C>T | NP_002403.2:p.Leu115Phe | |
| NM_002412.4:c.343C>T | NP_002403.2:p.Leu115Phe | |
| XM_005252682.2:c.250C>T | XP_005252739.1:p.Leu84Phe | |
| XM_006717863.2:c.73C>T | XP_006717926.1:p.Leu25Phe | |
| XM_011539817.1:c.259C>T | XP_011538119.1:p.Leu87Phe | |
| NM_002412.5:c.250C>T MANE Select | NP_002403.3:p.Leu84Phe | |
| XM_017016275.1:c.73C>T | XP_016871764.1:p.Leu25Phe |