Linked Data
ClinVar Variation Id:
2879423
ClinVar RCV Id:
RCV003710712
dbSNP Id:
rs369250859
ExAC:
12:132425856 C / G
gnomAD v2:
12-132425856-C-G
gnomAD v4:
12-131941311-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941311C>G , CM000674.2:g.131941311C>G | GRCh38 |
| NC_000012.11:g.132425856C>G , CM000674.1:g.132425856C>G | GRCh37 |
| NC_000012.10:g.130991809C>G | NCBI36 |
| NG_013039.1:g.17112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.564C>G MANE Select | ENSP00000365837.3:p.Gly188= | |
| ENST00000322060.9:c.480C>G | ENSP00000324726.5:p.Gly160= | |
| ENST00000376649.7:c.564C>G | ENSP00000365837.3:p.Gly188= | |
| ENST00000443358.6:c.480C>G | ENSP00000392451.2:p.Gly160= | |
| ENST00000535067.5:c.358-2228C>G | ENSP00000443969.1:n.358-2228C>G | |
| ENST00000537484.1:c.489C>G | ENSP00000440179.1:p.Gly163= | |
| ENST00000542167.2:c.405C>G | ENSP00000438948.1:p.Gly135= | |
| ENST00000543754.1:n.385C>G | ||
| NM_001002019.2:c.480C>G | NP_001002019.1:p.Gly160= | |
| NM_001002020.2:c.480C>G | NP_001002020.1:p.Gly160= | |
| NM_025215.5:c.564C>G | NP_079491.2:p.Gly188= | |
| XM_011538768.1:c.165C>G | XP_011537070.1:p.Gly55= | |
| XM_011538768.3:c.165C>G | XP_011537070.1:p.Gly55= | |
| XR_001748872.1:n.1019C>G | ||
| NM_001002019.3:c.480C>G | NP_001002019.1:p.Gly160= | |
| NM_001002020.3:c.480C>G | NP_001002020.1:p.Gly160= | |
| NM_025215.6:c.564C>G MANE Select | NP_079491.2:p.Gly188= |