Linked Data
ClinVar Variation Id:
1541868
ClinVar RCV Id:
RCV002164806
dbSNP Id:
rs2136443294
gnomAD v4:
12-131941338-T-C
MyVariant Identifiers:
chr12:g.132425883T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941338T>C , CM000674.2:g.131941338T>C | GRCh38 |
| NC_000012.11:g.132425883T>C , CM000674.1:g.132425883T>C | GRCh37 |
| NC_000012.10:g.130991836T>C | NCBI36 |
| NG_013039.1:g.17139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.591T>C MANE Select | ENSP00000365837.3:p.Asp197= | |
| ENST00000322060.9:c.507T>C | ENSP00000324726.5:p.Asp169= | |
| ENST00000376649.7:c.591T>C | ENSP00000365837.3:p.Asp197= | |
| ENST00000443358.6:c.507T>C | ENSP00000392451.2:p.Asp169= | |
| ENST00000535067.5:c.358-2201T>C | ENSP00000443969.1:n.358-2201T>C | |
| ENST00000537484.1:c.516T>C | ENSP00000440179.1:p.Asp172= | |
| ENST00000542167.2:c.432T>C | ENSP00000438948.1:p.Asp144= | |
| ENST00000543754.1:n.412T>C | ||
| NM_001002019.2:c.507T>C | NP_001002019.1:p.Asp169= | |
| NM_001002020.2:c.507T>C | NP_001002020.1:p.Asp169= | |
| NM_025215.5:c.591T>C | NP_079491.2:p.Asp197= | |
| XM_011538768.1:c.192T>C | XP_011537070.1:p.Asp64= | |
| XM_011538768.3:c.192T>C | XP_011537070.1:p.Asp64= | |
| XR_001748872.1:n.1046T>C | ||
| NM_001002019.3:c.507T>C | NP_001002019.1:p.Asp169= | |
| NM_001002020.3:c.507T>C | NP_001002020.1:p.Asp169= | |
| NM_025215.6:c.591T>C MANE Select | NP_079491.2:p.Asp197= |