Linked Data
ClinVar Variation Id:
465330
ClinVar RCV Id:
RCV000524837
dbSNP Id:
rs199653162
ExAC:
5:125918637 C / G
gnomAD v2:
5-125918637-C-G
gnomAD v3:
5-126582945-C-G
gnomAD v4:
5-126582945-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126582945C>G , CM000667.2:g.126582945C>G | GRCh38 |
| NC_000005.9:g.125918637C>G , CM000667.1:g.125918637C>G | GRCh37 |
| NC_000005.8:g.125946536C>G | NCBI36 |
| NG_008600.2:g.17446G>C | |
| NG_008600.3:g.17446G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.423G>C MANE Select | ENSP00000387123.3:p.Val141= | |
| ENST00000412186.2:c.393+987G>C | ENSP00000414536.2:n.393+987G>C | |
| ENST00000413020.6:c.423G>C | ENSP00000487936.1:p.Val141= | |
| ENST00000458249.6:c.*332G>C | ENSP00000403929.1:n.*332G>C | |
| ENST00000503281.6:c.107-5734G>C | ||
| ENST00000509270.2:c.357G>C | ENSP00000449318.2:p.Val119= | |
| ENST00000509459.6:c.66-5734G>C | ||
| ENST00000511266.6:n.1145G>C | ||
| ENST00000635851.1:c.421G>C | ||
| ENST00000636062.1:n.318G>C | ||
| ENST00000636190.1:n.302G>C | ||
| ENST00000636225.1:c.*232G>C | ENSP00000490797.1:n.*232G>C | |
| ENST00000636286.1:n.141G>C | ||
| ENST00000636743.1:c.303G>C | ENSP00000489725.1:p.Val101= | |
| ENST00000636808.1:c.*232G>C | ENSP00000490833.1:n.*232G>C | |
| ENST00000636872.1:c.583G>C | ENSP00000490919.1:n.583G>C | |
| ENST00000636879.1:c.423G>C | ENSP00000490811.1:p.Val141= | |
| ENST00000636886.1:c.222G>C | ENSP00000490371.1:p.Val74= | |
| ENST00000637070.1:n.37G>C | ||
| ENST00000637206.1:c.423G>C | ENSP00000489895.1:p.Val141= | |
| ENST00000637272.1:c.423G>C | ENSP00000489686.1:p.Val141= | |
| ENST00000637292.1:c.76G>C | ||
| ENST00000637782.1:c.423G>C | ENSP00000490024.1:p.Val141= | |
| ENST00000637964.1:c.369G>C | ENSP00000490291.1:p.Val123= | |
| ENST00000638008.1:c.*365G>C | ENSP00000490400.1:n.*365G>C | |
| ENST00000409134.7:c.423G>C | ENSP00000387123.3:p.Val141= | |
| ENST00000413020.5:c.423G>C | ENSP00000487936.1:p.Val141= | |
| ENST00000447989.6:c.504G>C | ENSP00000414132.2:p.Val168= | |
| ENST00000458249.5:c.583G>C | ENSP00000403929.1:n.583G>C | |
| ENST00000503281.5:c.107-5734G>C | ||
| ENST00000509270.1:c.303G>C | ENSP00000449318.1:p.Val101= | |
| ENST00000509459.5:c.66-5734G>C | ||
| ENST00000510111.6:c.336G>C | ENSP00000447388.1:p.Val112= | |
| ENST00000511266.5:n.348+987G>C | ||
| ENST00000553117.5:c.423G>C | ENSP00000448593.1:p.Val141= | |
| NM_001182.4:c.423G>C | NP_001173.2:p.Val141= | |
| NM_001201377.1:c.339G>C | NP_001188306.1:p.Val113= | |
| NM_001202404.1:c.504G>C | NP_001189333.1:p.Val168= | |
| XM_011543417.1:c.18G>C | XP_011541719.1:p.Val6= | |
| XM_011543417.2:c.18G>C | XP_011541719.1:p.Val6= | |
| NM_001182.5:c.423G>C MANE Select | NP_001173.2:p.Val141= | |
| NM_001201377.2:c.339G>C | NP_001188306.1:p.Val113= | |
| NM_001202404.2:c.423G>C | NP_001189333.2:p.Val141= |