Linked Data
ClinVar Variation Id:
1651816
ClinVar RCV Id:
RCV002154189
dbSNP Id:
rs1230399331
gnomAD v4:
1-1043998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1043998G>A , CM000663.2:g.1043998G>A | GRCh38 |
| NC_000001.10:g.979378G>A , CM000663.1:g.979378G>A | GRCh37 |
| NC_000001.9:g.969241G>A | NCBI36 |
| NG_016346.1:g.28876G>A , LRG_198:g.28876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.1974G>A MANE Select | ENSP00000368678.2:p.Glu658= | |
| ENST00000651234.1:c.1659G>A | ENSP00000499046.1:p.Glu553= | |
| ENST00000652369.1:c.1659G>A | ENSP00000498543.1:p.Glu553= | |
| ENST00000379370.6:c.1974G>A | ENSP00000368678.2:p.Glu658= | |
| ENST00000620552.4:c.1560G>A | ENSP00000484607.1:p.Glu520= | |
| NM_001305275.1:c.1974G>A | NP_001292204.1:p.Glu658= | |
| NM_198576.3:c.1974G>A | NP_940978.2:p.Glu658= | |
| XM_005244749.2:c.1974G>A | XP_005244806.1:p.Glu658= | |
| XM_006710635.2:c.1974G>A | XP_006710698.1:p.Glu658= | |
| XM_011541429.1:c.1974G>A | XP_011539731.1:p.Glu658= | |
| XM_011541430.1:c.1101G>A | XP_011539732.1:p.Glu367= | |
| XM_011541431.1:c.240G>A | XP_011539733.1:p.Glu80= | |
| XR_946650.1:n.2041G>A | ||
| NM_001364727.1:c.1659G>A | NP_001351656.1:p.Glu553= | |
| XM_005244749.3:c.1974G>A | XP_005244806.1:p.Glu658= | |
| XM_011541429.2:c.1974G>A | XP_011539731.1:p.Glu658= | |
| XR_946650.2:n.2045G>A | ||
| NM_001305275.2:c.1974G>A | NP_001292204.1:p.Glu658= | |
| NM_198576.4:c.1974G>A MANE Select | NP_940978.2:p.Glu658= | |
| NM_001364727.2:c.1659G>A | NP_001351656.1:p.Glu553= |