Revel Score:
ENST00000373366 (MANE Select)
0.781
ENST00000373362
0.781
ENST00000543647
0.781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34784887G>C , CM000663.2:g.34784887G>C | GRCh38 |
| NC_000001.10:g.35250488G>C , CM000663.1:g.35250488G>C | GRCh37 |
| NC_000001.9:g.35023075G>C | NCBI36 |
| NG_008309.1:g.8699G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.125G>C (GJB3) MANE Select | ENSP00000362464.2:p.Arg42Pro | |
| ENST00000373362.3:c.125G>C (GJB3) | ENSP00000362460.3:p.Arg42Pro | |
| ENST00000373366.2:c.125G>C (GJB3) | ENSP00000362464.2:p.Arg42Pro | |
| ENST00000426886.1:c.208-66478C>G (SMIM12) | ENSP00000429902.1:n.208-66478C>G | |
| NM_001005752.1:c.125G>C (GJB3) | NP_001005752.1:p.Arg42Pro | |
| NM_024009.2:c.125G>C (GJB3) | NP_076872.1:p.Arg42Pro | |
| XR_947179.1:n.1001+13484C>G | ||
| XR_001737967.1:n.1023+13484C>G | ||
| NM_024009.3:c.125G>C (GJB3) MANE Select | NP_076872.1:p.Arg42Pro | |
| NM_001005752.2:c.125G>C (GJB3) | NP_001005752.1:p.Arg42Pro |