Linked Data
dbSNP Id:
rs755780569
ExAC:
1:35227069 T / C
gnomAD v2:
1-35227069-T-C
gnomAD v3:
1-34761468-T-C
gnomAD v4:
1-34761468-T-C
COSMIC:
COSM2079848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761468T>C , CM000663.2:g.34761468T>C | GRCh38 |
| NC_000001.10:g.35227069T>C , CM000663.1:g.35227069T>C | GRCh37 |
| NC_000001.9:g.34999656T>C | NCBI36 |
| NG_016243.1:g.6728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.214T>C (GJB4) MANE Select | ENSP00000345868.1:p.Ser72Pro | |
| ENST00000339480.1:c.214T>C (GJB4) | ENSP00000345868.1:p.Ser72Pro | |
| ENST00000426886.1:c.208-43059A>G (SMIM12) | ENSP00000429902.1:n.208-43059A>G | |
| NM_153212.2:c.214T>C (GJB4) | NP_694944.1:p.Ser72Pro | |
| XM_011540679.1:c.214T>C (GJB4) | XP_011538981.1:p.Ser72Pro | |
| XR_947179.1:n.1002-18019A>G | ||
| XM_011540679.2:c.214T>C (GJB4) | XP_011538981.1:p.Ser72Pro | |
| XR_001737967.1:n.1023+36903A>G | ||
| NM_153212.3:c.214T>C (GJB4) MANE Select | NP_694944.1:p.Ser72Pro |