Revel Score:
ENST00000262367 (MANE Select)
0.353
ENST00000543883
0.353
ENST00000382070
0.353
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010254 (AFR)
Genomes Max Group AF
0.0000957 (AFR)
Exomes Max Group AF
0.00006092 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3782888T>C , CM000678.2:g.3782888T>C | GRCh38 |
| NC_000016.9:g.3832889T>C , CM000678.1:g.3832889T>C | GRCh37 |
| NC_000016.8:g.3772890T>C | NCBI36 |
| NG_009873.1:g.102233A>G | |
| NG_009873.2:g.102826A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1369A>G MANE Select | ENSP00000262367.5:p.Ile457Val | |
| ENST00000636002.1:n.82A>G | ||
| ENST00000262367.9:c.1369A>G | ENSP00000262367.5:p.Ile457Val | |
| ENST00000382070.7:c.1255A>G | ENSP00000371502.3:p.Ile419Val | |
| NM_001079846.1:c.1255A>G | NP_001073315.1:p.Ile419Val | |
| NM_004380.2:c.1369A>G | NP_004371.2:p.Ile457Val | |
| XM_005255124.3:c.1369A>G | XP_005255181.1:p.Ile457Val | |
| XM_005255125.3:c.1369A>G | XP_005255182.1:p.Ile457Val | |
| XM_006720848.2:c.1369A>G | XP_006720911.1:p.Ile457Val | |
| XM_011522380.1:c.1315A>G | XP_011520682.1:p.Ile439Val | |
| XM_011522381.1:c.616A>G | XP_011520683.1:p.Ile206Val | |
| XM_011522382.1:c.1369A>G | XP_011520684.1:p.Ile457Val | |
| XM_005255124.4:c.1369A>G | XP_005255181.1:p.Ile457Val | |
| XM_005255125.4:c.1369A>G | XP_005255182.1:p.Ile457Val | |
| XM_006720848.3:c.1369A>G | XP_006720911.1:p.Ile457Val | |
| XM_011522381.2:c.616A>G | XP_011520683.1:p.Ile206Val | |
| XM_011522382.3:c.1369A>G | XP_011520684.1:p.Ile457Val | |
| XM_017022944.1:c.1369A>G | XP_016878433.1:p.Ile457Val | |
| NM_004380.3:c.1369A>G MANE Select | NP_004371.2:p.Ile457Val |