Revel Score:
ENST00000461574
0.026
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Genomes Max Group AF
0.00001918 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091781C>T , CM000679.2:g.43091781C>T | GRCh38 |
| NC_000017.10:g.41243798C>T , CM000679.1:g.41243798C>T | GRCh37 |
| NC_000017.9:g.38497324C>T | NCBI36 |
| NG_005905.2:g.126203G>A , LRG_292:g.126203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3814G>A | ||
| ENST00000461574.2:c.3750G>A | ENSP00000417241.2:p.Glu1250= | |
| ENST00000470026.6:c.3750G>A | ENSP00000419274.2:p.Glu1250= | |
| ENST00000473961.6:c.3624G>A | ENSP00000420201.2:p.Glu1208= | |
| ENST00000476777.6:c.3747G>A | ENSP00000417554.2:p.Glu1249= | |
| ENST00000477152.6:c.3672G>A | ENSP00000419988.2:p.Glu1224= | |
| ENST00000478531.6:c.785-749G>A | ENSP00000420412.2:n.785-749G>A | |
| ENST00000489037.2:c.3672G>A | ENSP00000420781.2:p.Glu1224= | |
| ENST00000493919.6:c.647-749G>A | ENSP00000418819.2:n.647-749G>A | |
| ENST00000494123.6:c.3750G>A | ENSP00000419103.2:p.Glu1250= | |
| ENST00000497488.2:c.2862G>A | ENSP00000418986.2:p.Glu954= | |
| ENST00000618469.2:c.3750G>A | ENSP00000478114.2:p.Glu1250= | |
| ENST00000634433.2:c.3627G>A | ENSP00000489431.2:p.Glu1209= | |
| ENST00000644379.2:c.3750G>A | ENSP00000496570.2:p.Glu1250= | |
| ENST00000644555.2:c.647-749G>A | ENSP00000494614.2:n.647-749G>A | |
| ENST00000652672.2:c.3609G>A | ENSP00000498906.2:p.Glu1203= | |
| ENST00000484087.6:c.665-749G>A | ENSP00000419481.2:n.665-749G>A | |
| ENST00000700182.1:c.707-749G>A | ENSP00000514849.1:n.707-749G>A | |
| ENST00000357654.9:c.3750G>A MANE Select | ENSP00000350283.3:p.Glu1250= | |
| ENST00000471181.7:c.3750G>A | ENSP00000418960.2:p.Glu1250= | |
| ENST00000644379.1:c.71G>A | ||
| ENST00000352993.7:c.671-749G>A | ENSP00000312236.5:n.671-749G>A | |
| ENST00000354071.7:c.3750G>A | ENSP00000326002.7:p.Glu1250= | |
| ENST00000357654.7:c.3750G>A | ENSP00000350283.3:p.Glu1250= | |
| ENST00000461221.5:c.*3533G>A | ENSP00000418548.1:n.*3533G>A | |
| ENST00000461574.1:c.44G>A | ||
| ENST00000468300.5:c.788-749G>A | ENSP00000417148.1:n.788-749G>A | |
| ENST00000471181.6:c.3750G>A | ENSP00000418960.2:p.Glu1250= | |
| ENST00000478531.5:c.785-749G>A | ENSP00000420412.1:n.785-749G>A | |
| ENST00000484087.5:c.410-749G>A | ENSP00000419481.1:n.410-749G>A | |
| ENST00000487825.5:c.413-749G>A | ENSP00000418212.1:n.413-749G>A | |
| ENST00000491747.6:c.788-749G>A | ENSP00000420705.2:n.788-749G>A | |
| ENST00000493795.5:c.3609G>A | ENSP00000418775.1:p.Glu1203= | |
| ENST00000493919.5:c.647-749G>A | ENSP00000418819.1:n.647-749G>A | |
| ENST00000586385.5:c.5-27830G>A | ENSP00000465818.1:n.5-27830G>A | |
| ENST00000591534.5:c.-43-17260G>A | ENSP00000467329.1:n.-43-17260G>A | |
| ENST00000591849.5:c.-99+33490G>A | ENSP00000465347.1:n.-99+33490G>A | |
| NM_007294.3:c.3750G>A , LRG_292t1:c.3750G>A | NP_009225.1:p.Glu1250= | |
| NM_007297.3:c.3609G>A | NP_009228.2:p.Glu1203= | |
| NM_007298.3:c.788-749G>A | NP_009229.2:n.788-749G>A | |
| NM_007299.3:c.788-749G>A | NP_009230.2:n.788-749G>A | |
| NM_007300.3:c.3750G>A | NP_009231.2:p.Glu1250= | |
| NR_027676.1:n.3886G>A | ||
| NM_007294.4:c.3750G>A MANE Select | NP_009225.1:p.Glu1250= | |
| NM_007297.4:c.3609G>A | NP_009228.2:p.Glu1203= | |
| NM_007299.4:c.788-749G>A | NP_009230.2:n.788-749G>A | |
| NM_007300.4:c.3750G>A | NP_009231.2:p.Glu1250= | |
| NR_027676.2:n.3927G>A |