Revel Score:
ENST00000322776 (MANE Select)
0.367
ENST00000532303
0.367
ENST00000529927
0.367
ENST00000415352
0.367
ENST00000453836
0.367
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001567 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611511C>T , CM000673.2:g.67611511C>T | GRCh38 |
| NC_000011.9:g.67378982C>T , CM000673.1:g.67378982C>T | GRCh37 |
| NC_000011.8:g.67135558C>T | NCBI36 |
| NG_013353.1:g.9660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1022C>T MANE Select | ENSP00000322450.6:p.Ala341Val | |
| ENST00000647561.1:c.1022C>T | ENSP00000497587.1:p.Ala341Val | |
| ENST00000322776.10:c.1022C>T | ENSP00000322450.6:p.Ala341Val | |
| ENST00000415352.6:c.1001C>T | ENSP00000395368.2:p.Ala334Val | |
| ENST00000526169.1:n.656-11C>T | ||
| ENST00000526770.5:n.1305C>T | ||
| ENST00000527355.5:c.311C>T | ENSP00000432637.1:p.Ala104Val | |
| ENST00000527923.1:n.364C>T | ||
| ENST00000529927.5:c.995C>T | ENSP00000436766.1:p.Ala332Val | |
| ENST00000532303.5:c.719C>T | ENSP00000432015.1:p.Ala240Val | |
| ENST00000533919.5:c.426C>T | ENSP00000435199.1:n.426C>T | |
| NM_001166102.1:c.995C>T | NP_001159574.1:p.Ala332Val | |
| NM_007103.3:c.1022C>T | NP_009034.2:p.Ala341Val | |
| NM_001166102.2:c.995C>T | NP_001159574.1:p.Ala332Val | |
| NM_007103.4:c.1022C>T MANE Select | NP_009034.2:p.Ala341Val |