Revel Score:
ENST00000375499 (MANE Select)
0.857
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028605C>A , CM000663.2:g.17028605C>A | GRCh38 |
| NC_000001.10:g.17355100C>A , CM000663.1:g.17355100C>A | GRCh37 |
| NC_000001.9:g.17227687C>A | NCBI36 |
| NG_012340.1:g.30566G>T , LRG_316:g.30566G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.247G>T | ENSP00000481376.2:p.Val83Phe | |
| ENST00000491274.6:c.376G>T | ENSP00000480482.2:p.Val126Phe | |
| ENST00000375499.8:c.418G>T MANE Select | ENSP00000364649.3:p.Val140Phe | |
| ENST00000375499.7:c.418G>T | ENSP00000364649.3:p.Val140Phe | |
| ENST00000463045.2:c.247G>T | ENSP00000481376.1:p.Val83Phe | |
| ENST00000475506.1:n.335G>T | ||
| ENST00000485515.5:n.357+49G>T | ||
| ENST00000491274.5:c.376G>T | ENSP00000480482.1:p.Val126Phe | |
| NM_003000.2:c.418G>T , LRG_316t1:c.418G>T | NP_002991.2:p.Val140Phe | |
| NM_003000.3:c.418G>T MANE Select | NP_002991.2:p.Val140Phe |