Linked Data
ClinVar Variation Id:
197721
dbSNP Id:
rs375491094
ExAC:
5:125918566 C / G
gnomAD v2:
5-125918566-C-G
gnomAD v3:
5-126582874-C-G
gnomAD v4:
5-126582874-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126582874C>G , CM000667.2:g.126582874C>G | GRCh38 |
| NC_000005.9:g.125918566C>G , CM000667.1:g.125918566C>G | GRCh37 |
| NC_000005.8:g.125946465C>G | NCBI36 |
| NG_008600.2:g.17517G>C | |
| NG_008600.3:g.17517G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.494G>C MANE Select | ENSP00000387123.3:p.Gly165Ala | |
| ENST00000412186.2:c.393+1058G>C | ENSP00000414536.2:n.393+1058G>C | |
| ENST00000413020.6:c.494G>C | ENSP00000487936.1:p.Gly165Ala | |
| ENST00000458249.6:c.*403G>C | ENSP00000403929.1:n.*403G>C | |
| ENST00000503281.6:c.107-5663G>C | ||
| ENST00000509270.2:c.428G>C | ENSP00000449318.2:p.Gly143Ala | |
| ENST00000509459.6:c.66-5663G>C | ||
| ENST00000511266.6:n.1216G>C | ||
| ENST00000635851.1:c.492G>C | ||
| ENST00000636062.1:n.389G>C | ||
| ENST00000636190.1:n.373G>C | ||
| ENST00000636225.1:c.*303G>C | ENSP00000490797.1:n.*303G>C | |
| ENST00000636286.1:n.212G>C | ||
| ENST00000636743.1:c.374G>C | ENSP00000489725.1:p.Gly125Ala | |
| ENST00000636808.1:c.*303G>C | ENSP00000490833.1:n.*303G>C | |
| ENST00000636872.1:c.654G>C | ENSP00000490919.1:n.654G>C | |
| ENST00000636879.1:c.494G>C | ENSP00000490811.1:p.Gly165Ala | |
| ENST00000636886.1:c.293G>C | ENSP00000490371.1:p.Gly98Ala | |
| ENST00000637070.1:n.108G>C | ||
| ENST00000637206.1:c.494G>C | ENSP00000489895.1:p.Gly165Ala | |
| ENST00000637272.1:c.494G>C | ENSP00000489686.1:p.Gly165Ala | |
| ENST00000637292.1:c.147G>C | ||
| ENST00000637782.1:c.494G>C | ENSP00000490024.1:p.Gly165Ala | |
| ENST00000637964.1:c.440G>C | ENSP00000490291.1:p.Gly147Ala | |
| ENST00000638008.1:c.*436G>C | ENSP00000490400.1:n.*436G>C | |
| ENST00000409134.7:c.494G>C | ENSP00000387123.3:p.Gly165Ala | |
| ENST00000413020.5:c.494G>C | ENSP00000487936.1:p.Gly165Ala | |
| ENST00000447989.6:c.575G>C | ENSP00000414132.2:p.Gly192Ala | |
| ENST00000458249.5:c.654G>C | ENSP00000403929.1:n.654G>C | |
| ENST00000503281.5:c.107-5663G>C | ||
| ENST00000509270.1:c.374G>C | ENSP00000449318.1:p.Gly125Ala | |
| ENST00000509459.5:c.66-5663G>C | ||
| ENST00000510111.6:c.407G>C | ENSP00000447388.1:p.Gly136Ala | |
| ENST00000511266.5:n.348+1058G>C | ||
| ENST00000553117.5:c.494G>C | ENSP00000448593.1:p.Gly165Ala | |
| NM_001182.4:c.494G>C | NP_001173.2:p.Gly165Ala | |
| NM_001201377.1:c.410G>C | NP_001188306.1:p.Gly137Ala | |
| NM_001202404.1:c.575G>C | NP_001189333.1:p.Gly192Ala | |
| XM_011543417.1:c.89G>C | XP_011541719.1:p.Gly30Ala | |
| XM_011543417.2:c.89G>C | XP_011541719.1:p.Gly30Ala | |
| NM_001182.5:c.494G>C MANE Select | NP_001173.2:p.Gly165Ala | |
| NM_001201377.2:c.410G>C | NP_001188306.1:p.Gly137Ala | |
| NM_001202404.2:c.494G>C | NP_001189333.2:p.Gly165Ala |