Revel Score:
ENST00000306010
0.051
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13323978 (NFE)
Genomes Max Group AF
0.12674879 (NFE)
Exomes Max Group AF
0.13351469 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129766800A>G , CM000672.2:g.129766800A>G | GRCh38 |
| NC_000010.10:g.131565064A>G , CM000672.1:g.131565064A>G | GRCh37 |
| NC_000010.9:g.131455054A>G | NCBI36 |
| NG_052673.1:g.304617A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306010.8:c.520A>G | ENSP00000302111.7:p.Ile174Val | |
| ENST00000651593.1:c.427A>G MANE Select | ENSP00000498729.1:p.Ile143Val | |
| ENST00000306010.7:c.520A>G | ENSP00000302111.7:p.Ile174Val | |
| NM_002412.3:c.520A>G | NP_002403.2:p.Ile174Val | |
| NM_002412.4:c.520A>G | NP_002403.2:p.Ile174Val | |
| XM_005252682.2:c.427A>G | XP_005252739.1:p.Ile143Val | |
| XM_006717863.2:c.250A>G | XP_006717926.1:p.Ile84Val | |
| XM_011539817.1:c.436A>G | XP_011538119.1:p.Ile146Val | |
| NM_002412.5:c.427A>G MANE Select | NP_002403.3:p.Ile143Val | |
| XM_017016275.1:c.250A>G | XP_016871764.1:p.Ile84Val |