Linked Data
dbSNP Id:
rs1764390
ExAC:
1:35259961 A / G
gnomAD v2:
1-35259961-A-G
gnomAD v3:
1-34794360-A-G
gnomAD v4:
1-34794360-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34794360A>G , CM000663.2:g.34794360A>G | GRCh38 |
| NC_000001.10:g.35259961A>G , CM000663.1:g.35259961A>G | GRCh37 |
| NC_000001.9:g.35032548A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342280.5:c.147A>G (GJA4) MANE Select | ENSP00000343676.4:p.Gln49= | |
| ENST00000342280.4:c.147A>G (GJA4) | ENSP00000343676.4:p.Gln49= | |
| ENST00000426886.1:c.207+61411T>C (SMIM12) | ENSP00000429902.1:n.207+61411T>C | |
| ENST00000450137.1:c.147A>G (GJA4) | ENSP00000409186.1:p.Gln49= | |
| NM_002060.2:c.147A>G (GJA4) | NP_002051.2:p.Gln49= | |
| XM_005270750.1:c.147A>G (GJA4) | XP_005270807.1:p.Gln49= | |
| XR_947179.1:n.1001+4011T>C | ||
| XM_005270750.2:c.147A>G (GJA4) | XP_005270807.1:p.Gln49= | |
| XM_017001043.2:c.147A>G (GJA4) | XP_016856532.1:p.Gln49= | |
| XR_001737967.1:n.1023+4011T>C | ||
| NM_002060.3:c.147A>G (GJA4) MANE Select | NP_002051.2:p.Gln49= |