Linked Data
ClinVar Variation Id:
1511119
ClinVar RCV Id:
RCV002043250
dbSNP Id:
rs1210108802
gnomAD v3:
2-127257675-A-T
gnomAD v4:
2-127257675-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127257675A>T , CM000664.2:g.127257675A>T | GRCh38 |
| NC_000002.11:g.128015251A>T , CM000664.1:g.128015251A>T | GRCh37 |
| NC_000002.10:g.127731721A>T | NCBI36 |
| NG_007454.1:g.41502T>A , LRG_462:g.41502T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2270T>A MANE Select | ENSP00000285398.2:p.Val757Glu | |
| ENST00000644317.1:c.*1759T>A | ENSP00000494012.1:n.*1759T>A | |
| ENST00000645233.1:c.*2482T>A | ENSP00000494116.1:n.*2482T>A | |
| ENST00000645467.1:c.*1042T>A | ENSP00000494889.1:n.*1042T>A | |
| ENST00000645736.1:c.1941T>A | ENSP00000494545.1:n.1941T>A | |
| ENST00000646042.1:n.3005T>A | ||
| ENST00000646654.1:c.*1737T>A | ENSP00000494526.1:n.*1737T>A | |
| ENST00000647169.1:c.2345T>A | ENSP00000495619.1:p.Val782Glu | |
| ENST00000647496.1:c.396-73T>A | ||
| ENST00000285398.6:c.2270T>A | ENSP00000285398.2:p.Val757Glu | |
| ENST00000426778.5:c.*2251T>A | ENSP00000415335.1:n.*2251T>A | |
| ENST00000445889.5:c.*2313T>A | ENSP00000390888.1:n.*2313T>A | |
| ENST00000491292.5:n.3640T>A | ||
| NM_000122.1:c.2270T>A , LRG_462t1:c.2270T>A | NP_000113.1:p.Val757Glu | |
| NM_001303416.1:c.2078T>A | NP_001290345.1:p.Val693Glu | |
| NM_001303418.1:c.2078T>A | NP_001290347.1:p.Val693Glu | |
| XM_011510794.1:c.2288T>A | XP_011509096.1:p.Val763Glu | |
| XM_011510795.1:c.1832T>A | XP_011509097.1:p.Val611Glu | |
| XM_011510794.2:c.2288T>A | XP_011509096.1:p.Val763Glu | |
| XM_017003583.1:c.1814T>A | XP_016859072.1:p.Val605Glu | |
| NM_000122.2:c.2270T>A MANE Select | NP_000113.1:p.Val757Glu | |
| NM_001303416.2:c.2078T>A | NP_001290345.1:p.Val693Glu | |
| NM_001303418.2:c.2078T>A | NP_001290347.1:p.Val693Glu |