Linked Data
ClinVar Variation Id:
2128719
ClinVar RCV Id:
RCV003057714
dbSNP Id:
rs200833564
gnomAD v2:
19-3595912-A-T
gnomAD v3:
19-3595914-A-T
gnomAD v4:
19-3595914-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595914A>T , CM000681.2:g.3595914A>T | GRCh38 |
| NC_000019.9:g.3595912A>T , CM000681.1:g.3595912A>T | GRCh37 |
| NC_000019.8:g.3546912A>T | NCBI36 |
| NG_013363.1:g.15920T>A , LRG_578:g.15920T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.806T>A MANE Select | ENSP00000364336.4:p.Val269Glu | |
| ENST00000375190.8:c.806T>A | ENSP00000364336.3:p.Val269Glu | |
| ENST00000411851.3:c.806T>A | ENSP00000393333.2:p.Val269Glu | |
| ENST00000589966.1:c.417T>A | ENSP00000468145.1:p.Ser139Arg | |
| NM_001060.5:c.806T>A , LRG_578t1:c.806T>A | NP_001051.1:p.Val269Glu | |
| NM_201636.2:c.806T>A | NP_963998.2:p.Val269Glu | |
| XM_011528214.1:c.806T>A | XP_011526516.1:p.Val269Glu | |
| XM_011528214.2:c.806T>A | XP_011526516.1:p.Val269Glu | |
| NM_001060.6:c.806T>A MANE Select | NP_001051.1:p.Val269Glu | |
| NM_201636.3:c.806T>A | NP_963998.2:p.Val269Glu |