Revel Score:
ENST00000373366 (MANE Select)
0.862
ENST00000373362
0.862
ENST00000543647
0.862
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785018T>C , CM000663.2:g.34785018T>C | GRCh38 |
| NC_000001.10:g.35250619T>C , CM000663.1:g.35250619T>C | GRCh37 |
| NC_000001.9:g.35023206T>C | NCBI36 |
| NG_008309.1:g.8830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.256T>C (GJB3) MANE Select | ENSP00000362464.2:p.Cys86Arg | |
| ENST00000373362.3:c.256T>C (GJB3) | ENSP00000362460.3:p.Cys86Arg | |
| ENST00000373366.2:c.256T>C (GJB3) | ENSP00000362464.2:p.Cys86Arg | |
| ENST00000426886.1:c.208-66609A>G (SMIM12) | ENSP00000429902.1:n.208-66609A>G | |
| NM_001005752.1:c.256T>C (GJB3) | NP_001005752.1:p.Cys86Arg | |
| NM_024009.2:c.256T>C (GJB3) | NP_076872.1:p.Cys86Arg | |
| XR_947179.1:n.1001+13353A>G | ||
| XR_001737967.1:n.1023+13353A>G | ||
| NM_024009.3:c.256T>C (GJB3) MANE Select | NP_076872.1:p.Cys86Arg | |
| NM_001005752.2:c.256T>C (GJB3) | NP_001005752.1:p.Cys86Arg |