Linked Data
ClinVar Variation Id:
331077
dbSNP Id:
rs375556869
ExAC:
2:128028928 C / A
gnomAD v2:
2-128028928-C-A
gnomAD v3:
2-127271352-C-A
gnomAD v4:
2-127271352-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127271352C>A , CM000664.2:g.127271352C>A | GRCh38 |
| NC_000002.11:g.128028928C>A , CM000664.1:g.128028928C>A | GRCh37 |
| NC_000002.10:g.127745398C>A | NCBI36 |
| NG_007454.1:g.27825G>T , LRG_462:g.27825G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1929G>T MANE Select | ENSP00000285398.2:p.Val643= | |
| ENST00000642972.1:n.288G>T | ||
| ENST00000644317.1:c.*1418G>T | ENSP00000494012.1:n.*1418G>T | |
| ENST00000645233.1:c.*2141G>T | ENSP00000494116.1:n.*2141G>T | |
| ENST00000645467.1:c.*701G>T | ENSP00000494889.1:n.*701G>T | |
| ENST00000645504.1:c.585G>T | ||
| ENST00000645736.1:c.1600G>T | ENSP00000494545.1:n.1600G>T | |
| ENST00000646042.1:n.2664G>T | ||
| ENST00000646654.1:c.*1396G>T | ENSP00000494526.1:n.*1396G>T | |
| ENST00000647169.1:c.2004G>T | ENSP00000495619.1:p.Val668= | |
| ENST00000647496.1:c.396-13750G>T | ||
| ENST00000285398.6:c.1929G>T | ENSP00000285398.2:p.Val643= | |
| ENST00000426778.5:c.*1910G>T | ENSP00000415335.1:n.*1910G>T | |
| ENST00000445889.5:c.*1972G>T | ENSP00000390888.1:n.*1972G>T | |
| NM_000122.1:c.1929G>T , LRG_462t1:c.1929G>T | NP_000113.1:p.Val643= | |
| NM_001303416.1:c.1737G>T | NP_001290345.1:p.Val579= | |
| NM_001303418.1:c.1737G>T | NP_001290347.1:p.Val579= | |
| XM_011510794.1:c.1947G>T | XP_011509096.1:p.Val649= | |
| XM_011510795.1:c.1491G>T | XP_011509097.1:p.Val497= | |
| XM_011510794.2:c.1947G>T | XP_011509096.1:p.Val649= | |
| XM_017003583.1:c.1473G>T | XP_016859072.1:p.Val491= | |
| NM_000122.2:c.1929G>T MANE Select | NP_000113.1:p.Val643= | |
| NM_001303416.2:c.1737G>T | NP_001290345.1:p.Val579= | |
| NM_001303418.2:c.1737G>T | NP_001290347.1:p.Val579= |