Linked Data
ClinVar Variation Id:
187535
ClinVar RCV Id:
RCV000167270
dbSNP Id:
rs541543215
ExAC:
5:131924526 T / A
gnomAD v2:
5-131924526-T-A
gnomAD v3:
5-132588834-T-A
gnomAD v4:
5-132588834-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132588834T>A , CM000667.2:g.132588834T>A | GRCh38 |
| NC_000005.9:g.131924526T>A , CM000667.1:g.131924526T>A | GRCh37 |
| NC_000005.8:g.131952425T>A | NCBI36 |
| NG_021151.1:g.36911T>A | |
| NG_021151.2:g.36858T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1199T>A MANE Select | ENSP00000368100.4:p.Val400Glu | |
| ENST00000638452.2:c.902T>A | ENSP00000492349.2:p.Val301Glu | |
| ENST00000638504.1:n.885T>A | ||
| ENST00000638568.2:c.902T>A | ENSP00000491158.2:p.Val301Glu | |
| ENST00000639899.1:n.1718T>A | ||
| ENST00000640655.2:c.902T>A | ENSP00000491596.2:p.Val301Glu | |
| ENST00000651160.1:c.1199T>A | ENSP00000498829.1:p.Val400Glu | |
| ENST00000651541.1:c.902T>A | ENSP00000498795.1:p.Val301Glu | |
| ENST00000651658.1:n.1626T>A | ||
| ENST00000651723.1:c.*1282T>A | ENSP00000498237.1:n.*1282T>A | |
| ENST00000652016.1:c.1199T>A | ENSP00000498267.1:p.Val400Glu | |
| ENST00000652485.1:c.1199T>A | ENSP00000498973.1:p.Val400Glu | |
| ENST00000378823.7:c.1199T>A | ENSP00000368100.4:p.Val400Glu | |
| ENST00000423956.5:c.1199T>A | ENSP00000390971.1:p.Val400Glu | |
| ENST00000453394.5:c.1199T>A | ENSP00000400049.1:p.Val400Glu | |
| ENST00000533482.5:c.*825T>A | ENSP00000431225.1:n.*825T>A | |
| NM_005732.3:c.1199T>A | NP_005723.2:p.Val400Glu | |
| NM_005732.4:c.1199T>A MANE Select | NP_005723.2:p.Val400Glu |