Revel Score:
ENST00000419748
0.384
ENST00000303236 (MANE Select)
0.384
ENST00000535951
0.384
ENST00000415570
0.384
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00517249 (NFE)
Genomes Max Group AF
0.00411211 (NFE)
Exomes Max Group AF
0.00521473 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88583496T>A , CM000664.2:g.88583496T>A | GRCh38 |
| NC_000002.11:g.88883014T>A , CM000664.1:g.88883014T>A | GRCh37 |
| NC_000002.10:g.88664129T>A | NCBI36 |
| NG_016424.1:g.49081A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682276.1:n.1142A>T | ||
| ENST00000682892.1:c.1244A>T | ENSP00000507214.1:p.Asp415Val | |
| ENST00000682952.1:n.1336A>T | ||
| ENST00000684455.1:c.910A>T | ||
| ENST00000684642.1:c.1094A>T | ENSP00000507355.1:p.Asp365Val | |
| ENST00000303236.9:c.1697A>T MANE Select | ENSP00000307235.3:p.Asp566Val | |
| ENST00000652099.1:c.1891A>T | ||
| ENST00000652736.1:n.1573A>T | ||
| ENST00000303236.7:c.1697A>T | ENSP00000307235.3:p.Asp566Val | |
| ENST00000415570.1:c.1334A>T | ENSP00000412076.1:p.Asp445Val | |
| ENST00000419748.5:c.1244A>T | ENSP00000408325.1:p.Asp415Val | |
| NM_001313915.1:c.1244A>T | NP_001300844.1:p.Asp415Val | |
| NM_004836.5:c.1697A>T | NP_004827.4:p.Asp566Val | |
| NM_004836.6:c.1697A>T | NP_004827.4:p.Asp566Val | |
| XM_005264649.3:c.1013A>T | XP_005264706.1:p.Asp338Val | |
| XR_939749.1:n.1906A>T | ||
| XM_017005376.2:c.1013A>T | XP_016860865.1:p.Asp338Val | |
| NM_004836.7:c.1697A>T MANE Select | NP_004827.4:p.Asp566Val | |
| NM_001313915.2:c.1244A>T | NP_001300844.1:p.Asp415Val |