Revel Score:
ENST00000403665 (MANE Select)
0.663
ENST00000264692
0.663
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284221G>A , CM000666.2:g.186284221G>A | GRCh38 |
| NC_000004.11:g.187205375G>A , CM000666.1:g.187205375G>A | GRCh37 |
| NC_000004.10:g.187442369G>A | NCBI36 |
| NG_008051.1:g.23258G>A , LRG_583:g.23258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1265G>A MANE Select | ENSP00000384957.2:p.Gly422Glu | |
| ENST00000264692.8:c.1103G>A | ENSP00000264692.5:p.Gly368Glu | |
| ENST00000403665.6:c.1265G>A | ENSP00000384957.2:p.Gly422Glu | |
| NM_000128.3:c.1265G>A , LRG_583t1:c.1265G>A | NP_000119.1:p.Gly422Glu | |
| XM_005262821.2:c.1268G>A | XP_005262878.1:p.Gly423Glu | |
| XM_005262822.2:c.1268G>A | XP_005262879.1:p.Gly423Glu | |
| XM_005262823.2:c.998G>A | XP_005262880.1:p.Gly333Glu | |
| XM_005262824.1:c.1268G>A | XP_005262881.1:p.Gly423Glu | |
| XM_006714137.1:c.1220G>A | XP_006714200.1:p.Gly407Glu | |
| XR_938706.1:n.1673G>A | ||
| XR_938707.1:n.1673G>A | ||
| XM_005262821.4:c.1268G>A | XP_005262878.1:p.Gly423Glu | |
| XM_005262822.4:c.1268G>A | XP_005262879.1:p.Gly423Glu | |
| XM_005262823.4:c.998G>A | XP_005262880.1:p.Gly333Glu | |
| XM_006714137.3:c.1220G>A | XP_006714200.1:p.Gly407Glu | |
| XR_001741172.2:n.1739G>A | ||
| NM_000128.4:c.1265G>A MANE Select | NP_000119.1:p.Gly422Glu |