Revel Score:
ENST00000527882
0.150
ENST00000379079
0.470
ENST00000332351
0.470
ENST00000530998
0.470
ENST00000452863 (MANE Select)
0.470
ENST00000448076
0.470
ENST00000527775
0.470
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00002995 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396404C>T , CM000673.2:g.32396404C>T | GRCh38 |
| NC_000011.9:g.32417950C>T , CM000673.1:g.32417950C>T | GRCh37 |
| NC_000011.8:g.32374526C>T | NCBI36 |
| NG_009272.1:g.44138G>A , LRG_525:g.44138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1066G>A | ENSP00000331327.5:p.Val356Met | |
| ENST00000379077.9:c.*301G>A | ENSP00000368368.5:n.*301G>A | |
| ENST00000379079.8:c.466G>A | ENSP00000368370.2:p.Val156Met | |
| ENST00000448076.9:c.1117G>A | ENSP00000413452.5:p.Val373Met | |
| ENST00000452863.10:c.1117G>A MANE Select | ENSP00000415516.5:p.Val373Met | |
| ENST00000526685.2:n.571G>A | ||
| ENST00000639563.3:c.1066G>A | ENSP00000492269.3:p.Val356Met | |
| ENST00000639907.2:n.260G>A | ||
| ENST00000640146.2:c.442G>A | ENSP00000491984.2:p.Val148Met | |
| ENST00000650861.1:n.1698G>A | ||
| ENST00000651459.1:c.35+3544G>A | ||
| ENST00000651668.1:n.54G>A | ||
| ENST00000651794.1:n.860G>A | ||
| ENST00000651819.1:n.42G>A | ||
| ENST00000652579.1:n.277G>A | ||
| ENST00000652724.1:n.307G>A | ||
| ENST00000332351.7:c.1102G>A | ENSP00000331327.3:p.Val368Met | |
| ENST00000379077.7:c.*301G>A | ENSP00000368368.3:n.*301G>A | |
| ENST00000379079.6:c.466G>A | ENSP00000368370.2:p.Val156Met | |
| ENST00000448076.7:c.1102G>A | ENSP00000413452.3:p.Val368Met | |
| ENST00000452863.7:c.1051G>A | ENSP00000415516.3:p.Val351Met | |
| ENST00000526685.1:c.-72G>A | ENSP00000436292.1:n.-72G>A | |
| ENST00000527775.1:c.355G>A | ENSP00000435351.1:p.Val119Met | |
| ENST00000527882.5:c.173G>A | ||
| ENST00000530998.5:c.415G>A | ENSP00000435307.1:p.Val139Met | |
| NM_000378.4:c.1051G>A | NP_000369.3:p.Val351Met | |
| NM_001198551.1:c.466G>A , LRG_525t2:c.466G>A | NP_001185480.1:p.Val156Met | |
| NM_001198552.1:c.415G>A | NP_001185481.1:p.Val139Met | |
| NM_024424.3:c.1102G>A | NP_077742.2:p.Val368Met | |
| NM_024426.4:c.1102G>A | NP_077744.3:p.Val368Met | |
| NM_000378.5:c.1066G>A | NP_000369.4:p.Val356Met | |
| NM_024424.4:c.1117G>A | NP_077742.3:p.Val373Met | |
| NM_024426.5:c.1117G>A | NP_077744.4:p.Val373Met | |
| NM_001367854.1:c.-72G>A | NP_001354783.1:n.-72G>A | |
| NR_160306.1:n.1449G>A | ||
| NM_000378.6:c.1066G>A | NP_000369.4:p.Val356Met | |
| NM_001198552.2:c.415G>A | NP_001185481.1:p.Val139Met | |
| NM_024424.5:c.1117G>A | NP_077742.3:p.Val373Met | |
| NM_024426.6:c.1117G>A MANE Select | NP_077744.4:p.Val373Met |