Linked Data
dbSNP Id:
rs1640071006
MyVariant Identifiers:
chr1:g.35250387C>A (hg19)
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34784786C>A , CM000663.2:g.34784786C>A | GRCh38 |
| NC_000001.10:g.35250387C>A , CM000663.1:g.35250387C>A | GRCh37 |
| NC_000001.9:g.35022974C>A | NCBI36 |
| NG_008309.1:g.8598C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.24C>A (GJB3) MANE Select | ENSP00000362464.2:p.Ala8= | |
| ENST00000373362.3:c.24C>A (GJB3) | ENSP00000362460.3:p.Ala8= | |
| ENST00000373366.2:c.24C>A (GJB3) | ENSP00000362464.2:p.Ala8= | |
| ENST00000426886.1:c.208-66377G>T (SMIM12) | ENSP00000429902.1:n.208-66377G>T | |
| NM_001005752.1:c.24C>A (GJB3) | NP_001005752.1:p.Ala8= | |
| NM_024009.2:c.24C>A (GJB3) | NP_076872.1:p.Ala8= | |
| XR_947179.1:n.1001+13585G>T | ||
| XR_001737967.1:n.1023+13585G>T | ||
| NM_024009.3:c.24C>A (GJB3) MANE Select | NP_076872.1:p.Ala8= | |
| NM_001005752.2:c.24C>A (GJB3) | NP_001005752.1:p.Ala8= |