Linked Data
dbSNP Id:
rs141753540
ExAC:
1:35227040 A / G
gnomAD v2:
1-35227040-A-G
gnomAD v3:
1-34761439-A-G
gnomAD v4:
1-34761439-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761439A>G , CM000663.2:g.34761439A>G | GRCh38 |
| NC_000001.10:g.35227040A>G , CM000663.1:g.35227040A>G | GRCh37 |
| NC_000001.9:g.34999627A>G | NCBI36 |
| NG_016243.1:g.6699A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.185A>G (GJB4) MANE Select | ENSP00000345868.1:p.Asn62Ser | |
| ENST00000339480.1:c.185A>G (GJB4) | ENSP00000345868.1:p.Asn62Ser | |
| ENST00000426886.1:c.208-43030T>C (SMIM12) | ENSP00000429902.1:n.208-43030T>C | |
| NM_153212.2:c.185A>G (GJB4) | NP_694944.1:p.Asn62Ser | |
| XM_011540679.1:c.185A>G (GJB4) | XP_011538981.1:p.Asn62Ser | |
| XR_947179.1:n.1002-17990T>C | ||
| XM_011540679.2:c.185A>G (GJB4) | XP_011538981.1:p.Asn62Ser | |
| XR_001737967.1:n.1023+36932T>C | ||
| NM_153212.3:c.185A>G (GJB4) MANE Select | NP_694944.1:p.Asn62Ser |