Linked Data
ClinVar Variation Id:
1940118
ClinVar RCV Id:
RCV002658238
dbSNP Id:
rs1427747564
gnomAD v2:
2-128028932-C-T
gnomAD v3:
2-127271356-C-T
gnomAD v4:
2-127271356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127271356C>T , CM000664.2:g.127271356C>T | GRCh38 |
| NC_000002.11:g.128028932C>T , CM000664.1:g.128028932C>T | GRCh37 |
| NC_000002.10:g.127745402C>T | NCBI36 |
| NG_007454.1:g.27821G>A , LRG_462:g.27821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1925G>A MANE Select | ENSP00000285398.2:p.Arg642Gln | |
| ENST00000642972.1:n.284G>A | ||
| ENST00000644317.1:c.*1414G>A | ENSP00000494012.1:n.*1414G>A | |
| ENST00000645233.1:c.*2137G>A | ENSP00000494116.1:n.*2137G>A | |
| ENST00000645467.1:c.*697G>A | ENSP00000494889.1:n.*697G>A | |
| ENST00000645504.1:c.581G>A | ||
| ENST00000645736.1:c.1596G>A | ENSP00000494545.1:n.1596G>A | |
| ENST00000646042.1:n.2660G>A | ||
| ENST00000646654.1:c.*1392G>A | ENSP00000494526.1:n.*1392G>A | |
| ENST00000647169.1:c.2000G>A | ENSP00000495619.1:p.Arg667Gln | |
| ENST00000647496.1:c.396-13754G>A | ||
| ENST00000285398.6:c.1925G>A | ENSP00000285398.2:p.Arg642Gln | |
| ENST00000426778.5:c.*1906G>A | ENSP00000415335.1:n.*1906G>A | |
| ENST00000445889.5:c.*1968G>A | ENSP00000390888.1:n.*1968G>A | |
| NM_000122.1:c.1925G>A , LRG_462t1:c.1925G>A | NP_000113.1:p.Arg642Gln | |
| NM_001303416.1:c.1733G>A | NP_001290345.1:p.Arg578Gln | |
| NM_001303418.1:c.1733G>A | NP_001290347.1:p.Arg578Gln | |
| XM_011510794.1:c.1943G>A | XP_011509096.1:p.Arg648Gln | |
| XM_011510795.1:c.1487G>A | XP_011509097.1:p.Arg496Gln | |
| XM_011510794.2:c.1943G>A | XP_011509096.1:p.Arg648Gln | |
| XM_017003583.1:c.1469G>A | XP_016859072.1:p.Arg490Gln | |
| NM_000122.2:c.1925G>A MANE Select | NP_000113.1:p.Arg642Gln | |
| NM_001303416.2:c.1733G>A | NP_001290345.1:p.Arg578Gln | |
| NM_001303418.2:c.1733G>A | NP_001290347.1:p.Arg578Gln |