Linked Data
dbSNP Id:
rs772926796
ExAC:
1:35259764 T / A
gnomAD v2:
1-35259764-T-A
gnomAD v4:
1-34794163-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34794163T>A , CM000663.2:g.34794163T>A | GRCh38 |
| NC_000001.10:g.35259764T>A , CM000663.1:g.35259764T>A | GRCh37 |
| NC_000001.9:g.35032351T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342280.5:c.-17-34T>A (GJA4) MANE Select | ENSP00000343676.4:n.-17-34T>A | |
| ENST00000342280.4:c.-17-34T>A (GJA4) | ENSP00000343676.4:n.-17-34T>A | |
| ENST00000426886.1:c.207+61608A>T (SMIM12) | ENSP00000429902.1:n.207+61608A>T | |
| ENST00000450137.1:c.-51T>A (GJA4) | ENSP00000409186.1:n.-51T>A | |
| NM_002060.2:c.-17-34T>A (GJA4) | NP_002051.2:n.-17-34T>A | |
| XM_005270750.1:c.-51T>A (GJA4) | XP_005270807.1:n.-51T>A | |
| XR_947179.1:n.1001+4208A>T | ||
| XM_005270750.2:c.-51T>A (GJA4) | XP_005270807.1:n.-51T>A | |
| XM_017001043.2:c.-17-34T>A (GJA4) | XP_016856532.1:n.-17-34T>A | |
| XR_001737967.1:n.1023+4208A>T | ||
| NM_002060.3:c.-17-34T>A (GJA4) MANE Select | NP_002051.2:n.-17-34T>A |