Linked Data
ClinVar Variation Id:
257468
dbSNP Id:
rs2070489
ExAC:
3:38519424 A / G
gnomAD v2:
3-38519424-A-G
gnomAD v3:
3-38477933-A-G
gnomAD v4:
3-38477933-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38477933A>G , CM000665.2:g.38477933A>G | GRCh38 |
| NC_000003.11:g.38519424A>G , CM000665.1:g.38519424A>G | GRCh37 |
| NC_000003.10:g.38494428A>G | NCBI36 |
| NG_011791.1:g.28635A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352511.5:c.333A>G MANE Select | ENSP00000340361.3:p.Glu111= | |
| ENST00000352511.4:c.333A>G | ENSP00000340361.3:p.Glu111= | |
| ENST00000461232.1:n.4122A>G | ||
| ENST00000465020.5:n.337A>G | ||
| NM_001106.3:c.333A>G | NP_001097.2:p.Glu111= | |
| XM_005265583.2:c.396A>G | XP_005265640.1:p.Glu132= | |
| XM_005265583.3:c.396A>G | XP_005265640.1:p.Glu132= | |
| XM_017007514.1:c.375A>G | XP_016863003.1:p.Glu125= | |
| XM_017007515.2:c.351A>G | XP_016863004.1:p.Glu117= | |
| XM_017007516.1:c.330A>G | XP_016863005.1:p.Glu110= | |
| NM_001106.4:c.333A>G MANE Select | NP_001097.2:p.Glu111= |