Revel Score:
ENST00000359801 (MANE Select)
0.079
ENST00000444444
0.079
ENST00000537284
0.079
ENST00000381630
0.079
ENST00000381628
0.079
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010029 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00010195 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1478415T>A , CM000682.2:g.1478415T>A | GRCh38 |
| NC_000020.10:g.1459060T>A , CM000682.1:g.1459060T>A | GRCh37 |
| NC_000020.9:g.1407060T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359801.8:c.644A>T MANE Select | ENSP00000352849.3:p.Glu215Val | |
| ENST00000359801.7:c.644A>T | ENSP00000352849.3:p.Glu215Val | |
| ENST00000381630.2:n.374A>T | ||
| ENST00000444444.2:c.350A>T | ENSP00000402438.1:p.Glu117Val | |
| ENST00000481731.5:c.644A>T | ENSP00000432656.1:p.Glu215Val | |
| ENST00000486775.5:c.644A>T | ENSP00000435045.1:p.Glu215Val | |
| ENST00000608747.1:n.476A>T | ||
| NM_001122962.1:c.644A>T | NP_001116434.1:p.Glu215Val | |
| NM_001134836.1:c.350A>T | NP_001128308.1:p.Glu117Val | |
| XM_005260708.3:c.644A>T | XP_005260765.1:p.Glu215Val | |
| XM_005260709.3:c.350A>T | XP_005260766.1:p.Glu117Val | |
| XM_011529221.1:c.503A>T | XP_011527523.1:p.Glu168Val | |
| XM_011529222.1:c.644A>T | XP_011527524.1:p.Glu215Val | |
| XM_011529223.1:c.230A>T | XP_011527525.1:p.Glu77Val | |
| XM_011529224.1:c.230A>T | XP_011527526.1:p.Glu77Val | |
| XM_011529225.1:c.203A>T | XP_011527527.1:p.Glu68Val | |
| XR_937063.1:n.691A>T | ||
| XM_005260708.4:c.644A>T | XP_005260765.1:p.Glu215Val | |
| XM_011529221.2:c.503A>T | XP_011527523.1:p.Glu168Val | |
| XM_011529223.2:c.230A>T | XP_011527525.1:p.Glu77Val | |
| XM_011529224.2:c.230A>T | XP_011527526.1:p.Glu77Val | |
| XM_011529225.2:c.203A>T | XP_011527527.1:p.Glu68Val | |
| NM_001122962.2:c.644A>T MANE Select | NP_001116434.1:p.Glu215Val | |
| NM_001134836.2:c.350A>T | NP_001128308.1:p.Glu117Val |