Linked Data
ClinVar Variation Id:
6491
ClinVar RCV Id:
RCV000006864
dbSNP Id:
rs28937583
PubMed:
PMID:12019212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34784863T>C , CM000663.2:g.34784863T>C | GRCh38 |
| NC_000001.10:g.35250464T>C , CM000663.1:g.35250464T>C | GRCh37 |
| NC_000001.9:g.35023051T>C | NCBI36 |
| NG_008309.1:g.8675T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373366.3:c.101T>C (GJB3) MANE Select | ENSP00000362464.2:p.Leu34Pro | |
| ENST00000373362.3:c.101T>C (GJB3) | ENSP00000362460.3:p.Leu34Pro | |
| ENST00000373366.2:c.101T>C (GJB3) | ENSP00000362464.2:p.Leu34Pro | |
| ENST00000426886.1:c.208-66454A>G (SMIM12) | ENSP00000429902.1:n.208-66454A>G | |
| NM_001005752.1:c.101T>C (GJB3) | NP_001005752.1:p.Leu34Pro | |
| NM_024009.2:c.101T>C (GJB3) | NP_076872.1:p.Leu34Pro | |
| XR_947179.1:n.1001+13508A>G | ||
| XR_001737967.1:n.1023+13508A>G | ||
| NM_024009.3:c.101T>C (GJB3) MANE Select | NP_076872.1:p.Leu34Pro | |
| NM_001005752.2:c.101T>C (GJB3) | NP_001005752.1:p.Leu34Pro |