Linked Data
ClinVar Variation Id:
228046
dbSNP Id:
rs150444121
ExAC:
21:45941817 C / T
gnomAD v2:
21-45941817-C-T
gnomAD v3:
21-44521934-C-T
gnomAD v4:
21-44521934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44521934C>T , CM000683.2:g.44521934C>T | GRCh38 |
| NC_000021.8:g.45941817C>T , CM000683.1:g.45941817C>T | GRCh37 |
| NC_000021.7:g.44766245C>T | NCBI36 |
| NG_033806.1:g.194645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323084.9:c.1515G>A MANE Select | ENSP00000321987.4:p.Ser505= | |
| ENST00000642437.1:c.*1460G>A | ENSP00000496535.1:n.*1460G>A | |
| ENST00000323084.8:c.1515G>A | ENSP00000321987.4:p.Ser505= | |
| ENST00000397916.1:c.1311G>A | ENSP00000381012.1:p.Ser437= | |
| ENST00000613245.4:c.1074G>A | ENSP00000478010.1:p.Ser358= | |
| ENST00000614657.4:c.1311G>A | ENSP00000482422.1:p.Ser437= | |
| NM_001272037.1:c.1311G>A | NP_001258966.1:p.Ser437= | |
| NM_144991.2:c.1515G>A | NP_659428.2:p.Ser505= | |
| NM_144991.3:c.1515G>A MANE Select | NP_659428.2:p.Ser505= | |
| NM_001272037.2:c.1311G>A | NP_001258966.1:p.Ser437= |