Linked Data
ClinVar Variation Id:
210106
dbSNP Id:
rs143324306
ExAC:
1:979397 G / A
gnomAD v2:
1-979397-G-A
gnomAD v3:
1-1044017-G-A
gnomAD v4:
1-1044017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1044017G>A , CM000663.2:g.1044017G>A | GRCh38 |
| NC_000001.10:g.979397G>A , CM000663.1:g.979397G>A | GRCh37 |
| NC_000001.9:g.969260G>A | NCBI36 |
| NG_016346.1:g.28895G>A , LRG_198:g.28895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1993G>A MANE Select | ENSP00000368678.2:p.Glu665Lys | |
| ENST00000651234.1:c.1678G>A | ENSP00000499046.1:p.Glu560Lys | |
| ENST00000652369.1:c.1678G>A | ENSP00000498543.1:p.Glu560Lys | |
| ENST00000379370.6:c.1993G>A | ENSP00000368678.2:p.Glu665Lys | |
| ENST00000620552.4:c.1579G>A | ENSP00000484607.1:p.Glu527Lys | |
| NM_001305275.1:c.1993G>A | NP_001292204.1:p.Glu665Lys | |
| NM_198576.3:c.1993G>A | NP_940978.2:p.Glu665Lys | |
| XM_005244749.2:c.1993G>A | XP_005244806.1:p.Glu665Lys | |
| XM_006710635.2:c.1993G>A | XP_006710698.1:p.Glu665Lys | |
| XM_011541429.1:c.1993G>A | XP_011539731.1:p.Glu665Lys | |
| XM_011541430.1:c.1120G>A | XP_011539732.1:p.Glu374Lys | |
| XM_011541431.1:c.259G>A | XP_011539733.1:p.Glu87Lys | |
| XR_946650.1:n.2060G>A | ||
| NM_001364727.1:c.1678G>A | NP_001351656.1:p.Glu560Lys | |
| XM_005244749.3:c.1993G>A | XP_005244806.1:p.Glu665Lys | |
| XM_011541429.2:c.1993G>A | XP_011539731.1:p.Glu665Lys | |
| XR_946650.2:n.2064G>A | ||
| NM_001305275.2:c.1993G>A | NP_001292204.1:p.Glu665Lys | |
| NM_198576.4:c.1993G>A MANE Select | NP_940978.2:p.Glu665Lys | |
| NM_001364727.2:c.1678G>A | NP_001351656.1:p.Glu560Lys |