Revel Score:
ENST00000261584 (MANE Select)
0.063
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004649 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004821 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23624088C>T , CM000678.2:g.23624088C>T | GRCh38 |
| NC_000016.9:g.23635409C>T , CM000678.1:g.23635409C>T | GRCh37 |
| NC_000016.8:g.23542910C>T | NCBI36 |
| NG_007406.1:g.22270G>A , LRG_308:g.22270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2761G>A | ENSP00000460666.3:p.Val921Ile | |
| ENST00000565038.2:c.*236G>A | ENSP00000459882.2:n.*236G>A | |
| ENST00000566069.6:c.2755G>A | ENSP00000459237.2:p.Val919Ile | |
| ENST00000697377.2:c.2599G>A | ENSP00000513286.2:p.Val867Ile | |
| ENST00000697379.2:c.2761G>A | ENSP00000513287.2:p.Val921Ile | |
| ENST00000561514.2:c.1870G>A | ENSP00000460666.2:p.Val624Ile | |
| ENST00000697374.1:c.1870G>A | ENSP00000513284.1:p.Val624Ile | |
| ENST00000697375.1:n.4102G>A | ||
| ENST00000697376.1:c.1870G>A | ENSP00000513285.1:p.Val624Ile | |
| ENST00000697377.1:c.1708G>A | ENSP00000513286.1:p.Val570Ile | |
| ENST00000697378.1:n.3275G>A | ||
| ENST00000697379.1:c.1870G>A | ENSP00000513287.1:p.Val624Ile | |
| ENST00000697380.1:n.2047G>A | ||
| ENST00000697381.1:n.1450G>A | ||
| ENST00000697382.1:c.1870G>A | ENSP00000513288.1:p.Val624Ile | |
| ENST00000697383.1:c.289G>A | ENSP00000513289.1:p.Val97Ile | |
| ENST00000261584.9:c.2755G>A MANE Select | ENSP00000261584.4:p.Val919Ile | |
| ENST00000261584.8:c.2755G>A | ENSP00000261584.4:p.Val919Ile | |
| ENST00000565038.1:c.327G>A | ||
| ENST00000568219.5:c.1870G>A | ENSP00000454703.2:p.Val624Ile | |
| NM_024675.3:c.2755G>A , LRG_308t1:c.2755G>A | NP_078951.2:p.Val919Ile | |
| XM_011545946.1:c.2761G>A | XP_011544248.1:p.Val921Ile | |
| XM_011545947.1:c.2761G>A | XP_011544249.1:p.Val921Ile | |
| XM_011545948.1:c.1870G>A | XP_011544250.1:p.Val624Ile | |
| XR_950851.1:n.3551G>A | ||
| XM_011545946.2:c.2761G>A | XP_011544248.1:p.Val921Ile | |
| XM_011545947.2:c.2761G>A | XP_011544249.1:p.Val921Ile | |
| XM_011545948.2:c.1870G>A | XP_011544250.1:p.Val624Ile | |
| XM_017023671.1:c.2761G>A | XP_016879160.1:p.Val921Ile | |
| XM_017023672.2:c.2755G>A | XP_016879161.1:p.Val919Ile | |
| XM_017023673.2:c.2755G>A | XP_016879162.1:p.Val919Ile | |
| NM_024675.4:c.2755G>A MANE Select | NP_078951.2:p.Val919Ile |