Linked Data
ClinVar Variation Id:
255147
dbSNP Id:
rs150481419
ExAC:
15:43500471 A / G
gnomAD v2:
15-43500471-A-G
gnomAD v3:
15-43208273-A-G
gnomAD v4:
15-43208273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43208273A>G , CM000677.2:g.43208273A>G | GRCh38 |
| NC_000015.9:g.43500471A>G , CM000677.1:g.43500471A>G | GRCh37 |
| NC_000015.8:g.41287763A>G | NCBI36 |
| NG_011505.1:g.17853T>C | |
| NG_011505.2:g.22584T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.1032T>C MANE Select | ENSP00000396616.2:p.Asp344= | |
| ENST00000567019.2:n.538T>C | ||
| ENST00000648595.1:c.1122T>C | ENSP00000497777.1:p.Asp374= | |
| ENST00000300215.7:c.1122T>C | ENSP00000300215.3:p.Asp374= | |
| ENST00000441366.6:c.1032T>C | ENSP00000396616.2:p.Asp344= | |
| ENST00000540029.5:c.798T>C | ENSP00000444699.1:p.Asp266= | |
| ENST00000567019.1:n.547T>C | ||
| ENST00000568508.5:c.891T>C | ENSP00000457140.1:p.Asp297= | |
| ENST00000622454.4:c.971+364T>C | ENSP00000481226.1:n.971+364T>C | |
| NM_000119.2:c.1122T>C | NP_000110.2:p.Asp374= | |
| NM_001114134.1:c.1032T>C | NP_001107606.1:p.Asp344= | |
| XM_005254225.1:c.927T>C | XP_005254282.1:p.Asp309= | |
| XM_011521349.1:c.1122T>C | XP_011519651.1:p.Asp374= | |
| XM_011521350.1:c.1122T>C | XP_011519652.1:p.Asp374= | |
| XM_011521351.1:c.1122T>C | XP_011519653.1:p.Asp374= | |
| XM_011521352.1:c.1086T>C | XP_011519654.1:p.Asp362= | |
| XM_011521353.1:c.1017T>C | XP_011519655.1:p.Asp339= | |
| XM_011521354.1:c.567T>C | XP_011519656.1:p.Asp189= | |
| NM_000119.3:c.1122T>C | NP_000110.2:p.Asp374= | |
| XM_011521349.2:c.1122T>C | XP_011519651.1:p.Asp374= | |
| XM_011521350.2:c.1122T>C | XP_011519652.1:p.Asp374= | |
| XM_011521351.2:c.1122T>C | XP_011519653.1:p.Asp374= | |
| XM_011521352.2:c.1086T>C | XP_011519654.1:p.Asp362= | |
| XM_011521353.2:c.1017T>C | XP_011519655.1:p.Asp339= | |
| XM_011521354.2:c.567T>C | XP_011519656.1:p.Asp189= | |
| NM_001114134.2:c.1032T>C MANE Select | NP_001107606.1:p.Asp344= |