Revel Score:
ENST00000368089
0.280
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02059424 (MID)
Genomes Max Group AF
0.01650999 (NFE)
Exomes Max Group AF
0.02083681 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042480C>T , CM000663.2:g.160042480C>T | GRCh38 |
| NC_000001.10:g.160012270C>T , CM000663.1:g.160012270C>T | GRCh37 |
| NC_000001.9:g.158278894C>T | NCBI36 |
| NG_016411.1:g.32692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.25G>A | ||
| ENST00000636689.1:n.95-3132G>A | ||
| ENST00000637644.1:c.53G>A | ENSP00000490282.1:p.Arg18Gln | |
| ENST00000638728.1:c.53G>A | ENSP00000492619.1:p.Arg18Gln | |
| ENST00000638868.1:c.53G>A | ENSP00000491250.1:p.Arg18Gln | |
| ENST00000639408.1:c.53G>A | ENSP00000491635.1:p.Arg18Gln | |
| ENST00000640017.1:c.23G>A | ENSP00000491337.1:p.Arg8Gln | |
| ENST00000644903.1:c.53G>A MANE Select | ENSP00000495557.1:p.Arg18Gln | |
| ENST00000368089.3:c.53G>A | ENSP00000357068.3:p.Arg18Gln | |
| NM_002241.4:c.53G>A | NP_002232.2:p.Arg18Gln | |
| NM_002241.5:c.53G>A MANE Select | NP_002232.2:p.Arg18Gln |