Revel Score:
ENST00000368089
0.689
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030145 (NFE)
Genomes Max Group AF
0.00048158 (NFE)
Exomes Max Group AF
0.00028266 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042003T>C , CM000663.2:g.160042003T>C | GRCh38 |
| NC_000001.10:g.160011793T>C , CM000663.1:g.160011793T>C | GRCh37 |
| NC_000001.9:g.158278417T>C | NCBI36 |
| NG_016411.1:g.33169A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.502A>G | ||
| ENST00000636689.1:n.95-2655A>G | ||
| ENST00000637644.1:c.487+43A>G | ENSP00000490282.1:n.487+43A>G | |
| ENST00000638728.1:c.530A>G | ENSP00000492619.1:p.Glu177Gly | |
| ENST00000638840.1:c.252A>G | ||
| ENST00000638868.1:c.530A>G | ENSP00000491250.1:p.Glu177Gly | |
| ENST00000639408.1:c.487+43A>G | ENSP00000491635.1:n.487+43A>G | |
| ENST00000640017.1:c.500A>G | ENSP00000491337.1:p.Glu167Gly | |
| ENST00000644903.1:c.530A>G MANE Select | ENSP00000495557.1:p.Glu177Gly | |
| ENST00000368089.3:c.530A>G | ENSP00000357068.3:p.Glu177Gly | |
| ENST00000509700.1:n.293A>G | ||
| NM_002241.4:c.530A>G | NP_002232.2:p.Glu177Gly | |
| NM_002241.5:c.530A>G MANE Select | NP_002232.2:p.Glu177Gly |