Revel Score:
ENST00000366560 (MANE Select)
0.736
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011896 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00012269 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241513635T>A , CM000663.2:g.241513635T>A | GRCh38 |
| NC_000001.10:g.241676935T>A , CM000663.1:g.241676935T>A | GRCh37 |
| NC_000001.9:g.239743558T>A | NCBI36 |
| NG_012338.1:g.11120A>T , LRG_504:g.11120A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.849A>T | ||
| ENST00000682162.1:c.375A>T | ENSP00000508203.1:n.375A>T | |
| ENST00000682567.1:n.423A>T | ||
| ENST00000683521.1:c.346A>T | ENSP00000506864.1:p.Ile116Phe | |
| ENST00000684483.1:c.346A>T | ENSP00000507894.1:p.Ile116Phe | |
| ENST00000366560.4:c.346A>T MANE Select | ENSP00000355518.4:p.Ile116Phe | |
| ENST00000366560.3:c.346A>T | ENSP00000355518.3:p.Ile116Phe | |
| ENST00000497042.1:n.42A>T | ||
| NM_000143.3:c.346A>T , LRG_504t1:c.346A>T | NP_000134.2:p.Ile116Phe | |
| XM_011544132.1:c.118A>T | XP_011542434.1:p.Ile40Phe | |
| XM_011544132.2:c.118A>T | XP_011542434.1:p.Ile40Phe | |
| NM_000143.4:c.346A>T MANE Select | NP_000134.2:p.Ile116Phe |