Linked Data
ClinVar Variation Id:
6493
dbSNP Id:
rs117385606
ExAC:
1:35250943 G / A
gnomAD v2:
1-35250943-G-A
gnomAD v3:
1-34785342-G-A
gnomAD v4:
1-34785342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785342G>A , CM000663.2:g.34785342G>A | GRCh38 |
| NC_000001.10:g.35250943G>A , CM000663.1:g.35250943G>A | GRCh37 |
| NC_000001.9:g.35023530G>A | NCBI36 |
| NG_008309.1:g.9154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.580G>A (GJB3) MANE Select | ENSP00000362464.2:p.Ala194Thr | |
| ENST00000373362.3:c.580G>A (GJB3) | ENSP00000362460.3:p.Ala194Thr | |
| ENST00000373366.2:c.580G>A (GJB3) | ENSP00000362464.2:p.Ala194Thr | |
| ENST00000426886.1:c.208-66933C>T (SMIM12) | ENSP00000429902.1:n.208-66933C>T | |
| NM_001005752.1:c.580G>A (GJB3) | NP_001005752.1:p.Ala194Thr | |
| NM_024009.2:c.580G>A (GJB3) | NP_076872.1:p.Ala194Thr | |
| XR_947179.1:n.1001+13029C>T | ||
| XR_001737967.1:n.1023+13029C>T | ||
| NM_024009.3:c.580G>A (GJB3) MANE Select | NP_076872.1:p.Ala194Thr | |
| NM_001005752.2:c.580G>A (GJB3) | NP_001005752.1:p.Ala194Thr |