Linked Data
ClinVar Variation Id:
1531478
ClinVar RCV Id:
RCV002106728
dbSNP Id:
rs2136443242
gnomAD v4:
12-131941305-C-A
MyVariant Identifiers:
chr12:g.132425850C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941305C>A , CM000674.2:g.131941305C>A | GRCh38 |
| NC_000012.11:g.132425850C>A , CM000674.1:g.132425850C>A | GRCh37 |
| NC_000012.10:g.130991803C>A | NCBI36 |
| NG_013039.1:g.17106C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.558C>A MANE Select | ENSP00000365837.3:p.Val186= | |
| ENST00000322060.9:c.474C>A | ENSP00000324726.5:p.Val158= | |
| ENST00000376649.7:c.558C>A | ENSP00000365837.3:p.Val186= | |
| ENST00000443358.6:c.474C>A | ENSP00000392451.2:p.Val158= | |
| ENST00000535067.5:c.358-2234C>A | ENSP00000443969.1:n.358-2234C>A | |
| ENST00000537484.1:c.483C>A | ENSP00000440179.1:p.Val161= | |
| ENST00000542167.2:c.399C>A | ENSP00000438948.1:p.Val133= | |
| ENST00000543754.1:n.379C>A | ||
| NM_001002019.2:c.474C>A | NP_001002019.1:p.Val158= | |
| NM_001002020.2:c.474C>A | NP_001002020.1:p.Val158= | |
| NM_025215.5:c.558C>A | NP_079491.2:p.Val186= | |
| XM_011538768.1:c.159C>A | XP_011537070.1:p.Val53= | |
| XM_011538768.3:c.159C>A | XP_011537070.1:p.Val53= | |
| XR_001748872.1:n.1013C>A | ||
| NM_001002019.3:c.474C>A | NP_001002019.1:p.Val158= | |
| NM_001002020.3:c.474C>A | NP_001002020.1:p.Val158= | |
| NM_025215.6:c.558C>A MANE Select | NP_079491.2:p.Val186= |