Linked Data
ClinVar Variation Id:
786722
dbSNP Id:
rs145751680
ExAC:
1:35250613 G / A
gnomAD v2:
1-35250613-G-A
gnomAD v3:
1-34785012-G-A
gnomAD v4:
1-34785012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785012G>A , CM000663.2:g.34785012G>A | GRCh38 |
| NC_000001.10:g.35250613G>A , CM000663.1:g.35250613G>A | GRCh37 |
| NC_000001.9:g.35023200G>A | NCBI36 |
| NG_008309.1:g.8824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.250G>A (GJB3) MANE Select | ENSP00000362464.2:p.Val84Ile | |
| ENST00000373362.3:c.250G>A (GJB3) | ENSP00000362460.3:p.Val84Ile | |
| ENST00000373366.2:c.250G>A (GJB3) | ENSP00000362464.2:p.Val84Ile | |
| ENST00000426886.1:c.208-66603C>T (SMIM12) | ENSP00000429902.1:n.208-66603C>T | |
| NM_001005752.1:c.250G>A (GJB3) | NP_001005752.1:p.Val84Ile | |
| NM_024009.2:c.250G>A (GJB3) | NP_076872.1:p.Val84Ile | |
| XR_947179.1:n.1001+13359C>T | ||
| XR_001737967.1:n.1023+13359C>T | ||
| NM_024009.3:c.250G>A (GJB3) MANE Select | NP_076872.1:p.Val84Ile | |
| NM_001005752.2:c.250G>A (GJB3) | NP_001005752.1:p.Val84Ile |