Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761392T>C , CM000663.2:g.34761392T>C | GRCh38 |
| NC_000001.10:g.35226993T>C , CM000663.1:g.35226993T>C | GRCh37 |
| NC_000001.9:g.34999580T>C | NCBI36 |
| NG_016243.1:g.6652T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153212.3:c.138T>C (GJB4) MANE Select | NP_694944.1:p.Asp46= |
| ENST00000339480.3:c.138T>C (GJB4) MANE Select | ENSP00000345868.1:p.Asp46= |
| NM_153212.2:c.138T>C (GJB4) | NP_694944.1:p.Asp46= |
| ENST00000339480.1:c.138T>C (GJB4) | ENSP00000345868.1:p.Asp46= |
| ENST00000426886.1:c.208-42983A>G (SMIM12) | ENSP00000429902.1:n.208-42983A>G |
| XM_011540679.1:c.138T>C (GJB4) | XP_011538981.1:p.Asp46= |
| XM_011540679.2:c.138T>C (GJB4) | XP_011538981.1:p.Asp46= |
| XR_001737967.1:n.1023+36979A>G | |
| XR_947179.1:n.1002-17943A>G |