Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34781406C>G , CM000663.2:g.34781406C>G | GRCh38 |
| NC_000001.10:g.35247007C>G , CM000663.1:g.35247007C>G | GRCh37 |
| NC_000001.9:g.35019594C>G | NCBI36 |
| NG_008309.1:g.5218C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373366.3:c.-398C>G (GJB3) MANE Select | ENSP00000362464.2:n.-398C>G | |
| ENST00000373366.2:c.-398C>G (GJB3) | ENSP00000362464.2:n.-398C>G | |
| ENST00000426886.1:c.208-62997G>C (SMIM12) | ENSP00000429902.1:n.208-62997G>C | |
| NM_024009.2:c.-398C>G (GJB3) | NP_076872.1:n.-398C>G | |
| XR_947179.1:n.1001+16965G>C | ||
| XR_001737967.1:n.1023+16965G>C | ||
| NM_024009.3:c.-398C>G (GJB3) MANE Select | NP_076872.1:n.-398C>G |