Revel Score:
ENST00000373366 (MANE Select)
0.957
ENST00000373362
0.957
ENST00000543647
0.957
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00275008 (AMR)
Genomes Max Group AF
0.00081325 (AMR)
Exomes Max Group AF
0.0032923 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785309G>A , CM000663.2:g.34785309G>A | GRCh38 |
| NC_000001.10:g.35250910G>A , CM000663.1:g.35250910G>A | GRCh37 |
| NC_000001.9:g.35023497G>A | NCBI36 |
| NG_008309.1:g.9121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.547G>A (GJB3) MANE Select | ENSP00000362464.2:p.Glu183Lys | |
| ENST00000373362.3:c.547G>A (GJB3) | ENSP00000362460.3:p.Glu183Lys | |
| ENST00000373366.2:c.547G>A (GJB3) | ENSP00000362464.2:p.Glu183Lys | |
| ENST00000426886.1:c.208-66900C>T (SMIM12) | ENSP00000429902.1:n.208-66900C>T | |
| NM_001005752.1:c.547G>A (GJB3) | NP_001005752.1:p.Glu183Lys | |
| NM_024009.2:c.547G>A (GJB3) | NP_076872.1:p.Glu183Lys | |
| XR_947179.1:n.1001+13062C>T | ||
| XR_001737967.1:n.1023+13062C>T | ||
| NM_024009.3:c.547G>A (GJB3) MANE Select | NP_076872.1:p.Glu183Lys | |
| NM_001005752.2:c.547G>A (GJB3) | NP_001005752.1:p.Glu183Lys |