Linked Data
ClinVar Variation Id:
1783346
ClinVar RCV Id:
RCV002421655
dbSNP Id:
rs1207025746
gnomAD v3:
3-142562332-A-T
gnomAD v4:
3-142562332-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142562332A>T , CM000665.2:g.142562332A>T | GRCh38 |
| NC_000003.11:g.142281174A>T , CM000665.1:g.142281174A>T | GRCh37 |
| NC_000003.10:g.143763864A>T | NCBI36 |
| NG_008951.1:g.21495T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.1070T>A MANE Select | ENSP00000343741.4:p.Val357Glu | |
| ENST00000515149.3:c.293-911T>A | ENSP00000425897.3:n.293-911T>A | |
| ENST00000653868.1:n.1099T>A | ||
| ENST00000657914.1:n.3428T>A | ||
| ENST00000659195.1:n.3135T>A | ||
| ENST00000661310.1:c.1070T>A | ENSP00000499589.1:p.Val357Glu | |
| ENST00000350721.8:c.1070T>A | ENSP00000343741.4:p.Val357Glu | |
| ENST00000507148.1:c.*6T>A | ENSP00000426595.1:n.*6T>A | |
| ENST00000515149.2:c.113T>A | ENSP00000425897.2:p.Val38Glu | |
| NM_001184.3:c.1070T>A | NP_001175.2:p.Val357Glu | |
| XM_011512924.1:c.1070T>A | XP_011511226.1:p.Val357Glu | |
| XM_011512925.1:c.1070T>A | XP_011511227.1:p.Val357Glu | |
| XM_011512926.1:c.1070T>A | XP_011511228.1:p.Val357Glu | |
| XM_011512927.1:c.1070T>A | XP_011511229.1:p.Val357Glu | |
| XR_924147.1:n.1159T>A | ||
| XR_924148.1:n.1159T>A | ||
| XR_924149.1:n.1159T>A | ||
| NM_001354579.1:c.1070T>A | NP_001341508.1:p.Val357Glu | |
| XR_001740179.2:n.1159T>A | ||
| XR_001740180.2:n.1159T>A | ||
| XR_001740181.2:n.1159T>A | ||
| XR_001740182.1:n.1159T>A | ||
| XR_002959543.1:n.1159T>A | ||
| XR_924148.2:n.1159T>A | ||
| NM_001184.4:c.1070T>A MANE Select | NP_001175.2:p.Val357Glu | |
| NM_001354579.2:c.1070T>A | NP_001341508.1:p.Val357Glu |