Linked Data
ClinVar Variation Id:
2016038
ClinVar RCV Id:
RCV002846656
MyVariant Identifiers:
chr12:g.132425961C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941416C>G , CM000674.2:g.131941416C>G | GRCh38 |
| NC_000012.11:g.132425961C>G , CM000674.1:g.132425961C>G | GRCh37 |
| NC_000012.10:g.130991914C>G | NCBI36 |
| NG_013039.1:g.17217C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.669C>G MANE Select | ENSP00000365837.3:p.Arg223= | |
| ENST00000322060.9:c.585C>G | ENSP00000324726.5:p.Arg195= | |
| ENST00000376649.7:c.669C>G | ENSP00000365837.3:p.Arg223= | |
| ENST00000443358.6:c.585C>G | ENSP00000392451.2:p.Arg195= | |
| ENST00000535067.5:c.358-2123C>G | ENSP00000443969.1:n.358-2123C>G | |
| ENST00000537484.1:c.594C>G | ENSP00000440179.1:p.Arg198= | |
| ENST00000542167.2:c.510C>G | ENSP00000438948.1:p.Arg170= | |
| ENST00000543754.1:n.490C>G | ||
| NM_001002019.2:c.585C>G | NP_001002019.1:p.Arg195= | |
| NM_001002020.2:c.585C>G | NP_001002020.1:p.Arg195= | |
| NM_025215.5:c.669C>G | NP_079491.2:p.Arg223= | |
| XM_011538768.1:c.270C>G | XP_011537070.1:p.Arg90= | |
| XM_011538768.3:c.270C>G | XP_011537070.1:p.Arg90= | |
| XR_001748872.1:n.1124C>G | ||
| NM_001002019.3:c.585C>G | NP_001002019.1:p.Arg195= | |
| NM_001002020.3:c.585C>G | NP_001002020.1:p.Arg195= | |
| NM_025215.6:c.669C>G MANE Select | NP_079491.2:p.Arg223= |