Revel Score:
ENST00000403665 (MANE Select)
0.702
ENST00000264692
0.702
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001645 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001627 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285711T>G , CM000666.2:g.186285711T>G | GRCh38 |
| NC_000004.11:g.187206865T>G , CM000666.1:g.187206865T>G | GRCh37 |
| NC_000004.10:g.187443859T>G | NCBI36 |
| NG_008051.1:g.24748T>G , LRG_583:g.24748T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1378T>G MANE Select | ENSP00000384957.2:p.Phe460Val | |
| ENST00000264691.4:c.74T>G | ||
| ENST00000264692.8:c.1216T>G | ENSP00000264692.5:p.Phe406Val | |
| ENST00000403665.6:c.1378T>G | ENSP00000384957.2:p.Phe460Val | |
| NM_000128.3:c.1378T>G , LRG_583t1:c.1378T>G | NP_000119.1:p.Phe460Val | |
| XM_005262821.2:c.1381T>G | XP_005262878.1:p.Phe461Val | |
| XM_005262822.2:c.1381T>G | XP_005262879.1:p.Phe461Val | |
| XM_005262823.2:c.1111T>G | XP_005262880.1:p.Phe371Val | |
| XM_005262824.1:c.1381T>G | XP_005262881.1:p.Phe461Val | |
| XM_006714137.1:c.1333T>G | XP_006714200.1:p.Phe445Val | |
| XR_938706.1:n.1786T>G | ||
| XR_938707.1:n.1786T>G | ||
| XM_005262821.4:c.1381T>G | XP_005262878.1:p.Phe461Val | |
| XM_005262822.4:c.1381T>G | XP_005262879.1:p.Phe461Val | |
| XM_005262823.4:c.1111T>G | XP_005262880.1:p.Phe371Val | |
| XM_006714137.3:c.1333T>G | XP_006714200.1:p.Phe445Val | |
| XR_001741172.2:n.1852T>G | ||
| NM_000128.4:c.1378T>G MANE Select | NP_000119.1:p.Phe460Val |