Linked Data
ClinVar Variation Id:
236409
ClinVar RCV Id:
RCV000225429
dbSNP Id:
rs878853324
gnomAD v4:
1-40078579-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078579A>T , CM000663.2:g.40078579A>T | GRCh38 |
| NC_000001.10:g.40544251A>T , CM000663.1:g.40544251A>T | GRCh37 |
| NC_000001.9:g.40316838A>T | NCBI36 |
| NG_009192.1:g.23892T>A , LRG_690:g.23892T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.704T>A | ENSP00000394863.4:p.Val235Glu | |
| ENST00000439754.6:c.707T>A | ENSP00000403207.2:p.Val236Glu | |
| ENST00000449045.7:c.398T>A | ENSP00000392293.2:p.Val133Glu | |
| ENST00000527311.7:c.476T>A | ENSP00000436695.3:p.Val159Glu | |
| ENST00000530076.6:c.50T>A | ENSP00000434007.1:p.Val17Glu | |
| ENST00000530704.6:c.*330T>A | ENSP00000431655.1:n.*330T>A | |
| ENST00000641083.1:c.685T>A | ||
| ENST00000641236.1:n.944T>A | ||
| ENST00000641319.1:c.707T>A | ENSP00000493128.1:p.Val236Glu | |
| ENST00000641381.1:c.149-1666T>A | ||
| ENST00000641471.1:c.794T>A | ENSP00000493146.1:p.Val265Glu | |
| ENST00000641691.1:c.*559T>A | ENSP00000492910.1:n.*559T>A | |
| ENST00000641924.1:c.*136T>A | ENSP00000493063.1:n.*136T>A | |
| ENST00000642050.2:c.707T>A MANE Select | ENSP00000493153.1:p.Val236Glu | |
| ENST00000372775.2:n.104T>A | ||
| ENST00000372779.8:c.794T>A | ENSP00000361865.4:p.Val265Glu | |
| ENST00000433473.7:c.707T>A | ENSP00000394863.3:p.Val236Glu | |
| ENST00000439754.5:c.392T>A | ENSP00000403207.1:p.Val131Glu | |
| ENST00000449045.6:c.398T>A | ENSP00000392293.2:p.Val133Glu | |
| ENST00000527311.6:c.482T>A | ENSP00000436695.2:p.Val161Glu | |
| ENST00000529905.5:c.707T>A | ENSP00000432053.1:p.Val236Glu | |
| ENST00000530076.5:c.50T>A | ENSP00000434007.1:p.Val17Glu | |
| ENST00000530704.5:c.*330T>A | ENSP00000431655.1:n.*330T>A | |
| NM_000310.3:c.707T>A , LRG_690t1:c.707T>A | NP_000301.1:p.Val236Glu | |
| NM_001142604.1:c.398T>A | NP_001136076.1:p.Val133Glu | |
| XM_005271008.1:c.707T>A | XP_005271065.1:p.Val236Glu | |
| NM_001363695.1:c.707T>A | NP_001350624.1:p.Val236Glu | |
| NM_000310.4:c.707T>A MANE Select | NP_000301.1:p.Val236Glu | |
| NM_001142604.2:c.398T>A | NP_001136076.1:p.Val133Glu | |
| NM_001363695.2:c.707T>A | NP_001350624.1:p.Val236Glu |