Linked Data
ClinVar Variation Id:
426999
ClinVar RCV Id:
RCV000490186
dbSNP Id:
rs1028370381
gnomAD v4:
1-34785060-G-A
COSMIC:
COSM5380779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785060G>A , CM000663.2:g.34785060G>A | GRCh38 |
| NC_000001.10:g.35250661G>A , CM000663.1:g.35250661G>A | GRCh37 |
| NC_000001.9:g.35023248G>A | NCBI36 |
| NG_008309.1:g.8872G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373366.3:c.298G>A (GJB3) MANE Select | ENSP00000362464.2:p.Glu100Lys | |
| ENST00000373362.3:c.298G>A (GJB3) | ENSP00000362460.3:p.Glu100Lys | |
| ENST00000373366.2:c.298G>A (GJB3) | ENSP00000362464.2:p.Glu100Lys | |
| ENST00000426886.1:c.208-66651C>T (SMIM12) | ENSP00000429902.1:n.208-66651C>T | |
| NM_001005752.1:c.298G>A (GJB3) | NP_001005752.1:p.Glu100Lys | |
| NM_024009.2:c.298G>A (GJB3) | NP_076872.1:p.Glu100Lys | |
| XR_947179.1:n.1001+13311C>T | ||
| XR_001737967.1:n.1023+13311C>T | ||
| NM_024009.3:c.298G>A (GJB3) MANE Select | NP_076872.1:p.Glu100Lys | |
| NM_001005752.2:c.298G>A (GJB3) | NP_001005752.1:p.Glu100Lys |