Linked Data
dbSNP Id:
rs753611094
ExAC:
1:35250390 A / G
gnomAD v2:
1-35250390-A-G
gnomAD v4:
1-34784789-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34784789A>G , CM000663.2:g.34784789A>G | GRCh38 |
| NC_000001.10:g.35250390A>G , CM000663.1:g.35250390A>G | GRCh37 |
| NC_000001.9:g.35022977A>G | NCBI36 |
| NG_008309.1:g.8601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.27A>G (GJB3) MANE Select | ENSP00000362464.2:p.Leu9= | |
| ENST00000373362.3:c.27A>G (GJB3) | ENSP00000362460.3:p.Leu9= | |
| ENST00000373366.2:c.27A>G (GJB3) | ENSP00000362464.2:p.Leu9= | |
| ENST00000426886.1:c.208-66380T>C (SMIM12) | ENSP00000429902.1:n.208-66380T>C | |
| NM_001005752.1:c.27A>G (GJB3) | NP_001005752.1:p.Leu9= | |
| NM_024009.2:c.27A>G (GJB3) | NP_076872.1:p.Leu9= | |
| XR_947179.1:n.1001+13582T>C | ||
| XR_001737967.1:n.1023+13582T>C | ||
| NM_024009.3:c.27A>G (GJB3) MANE Select | NP_076872.1:p.Leu9= | |
| NM_001005752.2:c.27A>G (GJB3) | NP_001005752.1:p.Leu9= |