Linked Data
ClinVar Variation Id:
1954587
ClinVar RCV Id:
RCV002705727
dbSNP Id:
rs1158918089
gnomAD v2:
8-145150851-T-A
gnomAD v3:
8-144095948-T-A
gnomAD v4:
8-144095948-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144095948T>A , CM000670.2:g.144095948T>A | GRCh38 |
| NC_000008.10:g.145150851T>A , CM000670.1:g.145150851T>A | GRCh37 |
| NC_000008.9:g.145222839T>A | NCBI36 |
| NG_033872.1:g.5914T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.245T>A MANE Select | ENSP00000317159.4:p.Val82Glu | |
| ENST00000318911.4:c.245T>A | ENSP00000317159.4:p.Val82Glu | |
| ENST00000528618.1:n.463T>A | ||
| ENST00000533444.1:n.910T>A | ||
| NM_001916.4:c.245T>A | NP_001907.2:p.Val82Glu | |
| XM_017013102.1:c.68T>A | XP_016868591.1:p.Val23Glu | |
| XM_024447072.1:c.68T>A | XP_024302840.1:p.Val23Glu | |
| NM_001916.5:c.245T>A MANE Select | NP_001907.3:p.Val82Glu |