UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
6488
ClinVar RCV Id:
RCV000006861
dbSNP Id:
rs74315320
PubMed:
PMID:10587579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785183A>G , CM000663.2:g.34785183A>G | GRCh38 |
| NC_000001.10:g.35250784A>G , CM000663.1:g.35250784A>G | GRCh37 |
| NC_000001.9:g.35023371A>G | NCBI36 |
| NG_008309.1:g.8995A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373366.3:c.421A>G (GJB3) MANE Select | ENSP00000362464.2:p.Ile141Val | |
| ENST00000373362.3:c.421A>G (GJB3) | ENSP00000362460.3:p.Ile141Val | |
| ENST00000373366.2:c.421A>G (GJB3) | ENSP00000362464.2:p.Ile141Val | |
| ENST00000426886.1:c.208-66774T>C (SMIM12) | ENSP00000429902.1:n.208-66774T>C | |
| NM_001005752.1:c.421A>G (GJB3) | NP_001005752.1:p.Ile141Val | |
| NM_024009.2:c.421A>G (GJB3) | NP_076872.1:p.Ile141Val | |
| XR_947179.1:n.1001+13188T>C | ||
| XR_001737967.1:n.1023+13188T>C | ||
| NM_024009.3:c.421A>G (GJB3) MANE Select | NP_076872.1:p.Ile141Val | |
| NM_001005752.2:c.421A>G (GJB3) | NP_001005752.1:p.Ile141Val |