Linked Data
ClinVar Variation Id:
709647
ClinVar RCV Id:
RCV000881096
dbSNP Id:
rs143547547
ExAC:
1:35227074 C / T
gnomAD v2:
1-35227074-C-T
gnomAD v3:
1-34761473-C-T
gnomAD v4:
1-34761473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761473C>T , CM000663.2:g.34761473C>T | GRCh38 |
| NC_000001.10:g.35227074C>T , CM000663.1:g.35227074C>T | GRCh37 |
| NC_000001.9:g.34999661C>T | NCBI36 |
| NG_016243.1:g.6733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.219C>T (GJB4) MANE Select | ENSP00000345868.1:p.His73= | |
| ENST00000339480.1:c.219C>T (GJB4) | ENSP00000345868.1:p.His73= | |
| ENST00000426886.1:c.208-43064G>A (SMIM12) | ENSP00000429902.1:n.208-43064G>A | |
| NM_153212.2:c.219C>T (GJB4) | NP_694944.1:p.His73= | |
| XM_011540679.1:c.219C>T (GJB4) | XP_011538981.1:p.His73= | |
| XR_947179.1:n.1002-18024G>A | ||
| XM_011540679.2:c.219C>T (GJB4) | XP_011538981.1:p.His73= | |
| XR_001737967.1:n.1023+36898G>A | ||
| NM_153212.3:c.219C>T (GJB4) MANE Select | NP_694944.1:p.His73= |