Linked Data
ClinVar Variation Id:
2052681
ClinVar RCV Id:
RCV002937629
dbSNP Id:
rs371068109
ExAC:
12:132425855 G / C
gnomAD v2:
12-132425855-G-C
gnomAD v3:
12-131941310-G-C
gnomAD v4:
12-131941310-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941310G>C , CM000674.2:g.131941310G>C | GRCh38 |
| NC_000012.11:g.132425855G>C , CM000674.1:g.132425855G>C | GRCh37 |
| NC_000012.10:g.130991808G>C | NCBI36 |
| NG_013039.1:g.17111G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.563G>C MANE Select | ENSP00000365837.3:p.Gly188Ala | |
| ENST00000322060.9:c.479G>C | ENSP00000324726.5:p.Gly160Ala | |
| ENST00000376649.7:c.563G>C | ENSP00000365837.3:p.Gly188Ala | |
| ENST00000443358.6:c.479G>C | ENSP00000392451.2:p.Gly160Ala | |
| ENST00000535067.5:c.358-2229G>C | ENSP00000443969.1:n.358-2229G>C | |
| ENST00000537484.1:c.488G>C | ENSP00000440179.1:p.Gly163Ala | |
| ENST00000542167.2:c.404G>C | ENSP00000438948.1:p.Gly135Ala | |
| ENST00000543754.1:n.384G>C | ||
| NM_001002019.2:c.479G>C | NP_001002019.1:p.Gly160Ala | |
| NM_001002020.2:c.479G>C | NP_001002020.1:p.Gly160Ala | |
| NM_025215.5:c.563G>C | NP_079491.2:p.Gly188Ala | |
| XM_011538768.1:c.164G>C | XP_011537070.1:p.Gly55Ala | |
| XM_011538768.3:c.164G>C | XP_011537070.1:p.Gly55Ala | |
| XR_001748872.1:n.1018G>C | ||
| NM_001002019.3:c.479G>C | NP_001002019.1:p.Gly160Ala | |
| NM_001002020.3:c.479G>C | NP_001002020.1:p.Gly160Ala | |
| NM_025215.6:c.563G>C MANE Select | NP_079491.2:p.Gly188Ala |