Linked Data
ClinVar Variation Id:
2062466
ClinVar RCV Id:
RCV002957745
dbSNP Id:
rs140285560
ExAC:
3:38523994 G / A
gnomAD v2:
3-38523994-G-A
gnomAD v3:
3-38482503-G-A
gnomAD v4:
3-38482503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38482503G>A , CM000665.2:g.38482503G>A | GRCh38 |
| NC_000003.11:g.38523994G>A , CM000665.1:g.38523994G>A | GRCh37 |
| NC_000003.10:g.38498998G>A | NCBI36 |
| NG_011791.1:g.33205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352511.5:c.1287G>A MANE Select | ENSP00000340361.3:p.Glu429= | |
| ENST00000352511.4:c.1287G>A | ENSP00000340361.3:p.Glu429= | |
| ENST00000461232.1:n.5076G>A | ||
| ENST00000465020.5:n.1373G>A | ||
| NM_001106.3:c.1287G>A | NP_001097.2:p.Glu429= | |
| XM_005265583.2:c.1350G>A | XP_005265640.1:p.Glu450= | |
| XM_005265583.3:c.1350G>A | XP_005265640.1:p.Glu450= | |
| XM_017007514.1:c.1329G>A | XP_016863003.1:p.Glu443= | |
| XM_017007515.2:c.1305G>A | XP_016863004.1:p.Glu435= | |
| XM_017007516.1:c.1284G>A | XP_016863005.1:p.Glu428= | |
| NM_001106.4:c.1287G>A MANE Select | NP_001097.2:p.Glu429= |