Linked Data
dbSNP Id:
rs755603392
ExAC:
1:35259985 C / G
gnomAD v2:
1-35259985-C-G
gnomAD v4:
1-34794384-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34794384C>G , CM000663.2:g.34794384C>G | GRCh38 |
| NC_000001.10:g.35259985C>G , CM000663.1:g.35259985C>G | GRCh37 |
| NC_000001.9:g.35032572C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342280.5:c.171C>G (GJA4) MANE Select | ENSP00000343676.4:p.Ala57= | |
| ENST00000342280.4:c.171C>G (GJA4) | ENSP00000343676.4:p.Ala57= | |
| ENST00000426886.1:c.207+61387G>C (SMIM12) | ENSP00000429902.1:n.207+61387G>C | |
| ENST00000450137.1:c.171C>G (GJA4) | ENSP00000409186.1:p.Ala57= | |
| NM_002060.2:c.171C>G (GJA4) | NP_002051.2:p.Ala57= | |
| XM_005270750.1:c.171C>G (GJA4) | XP_005270807.1:p.Ala57= | |
| XR_947179.1:n.1001+3987G>C | ||
| XM_005270750.2:c.171C>G (GJA4) | XP_005270807.1:p.Ala57= | |
| XM_017001043.2:c.171C>G (GJA4) | XP_016856532.1:p.Ala57= | |
| XR_001737967.1:n.1023+3987G>C | ||
| NM_002060.3:c.171C>G (GJA4) MANE Select | NP_002051.2:p.Ala57= |