Linked Data
ClinVar Variation Id:
2445833
ClinVar RCV Id:
RCV003155752
dbSNP Id:
rs770059546
ExAC:
6:32007974 C / A
gnomAD v2:
6-32007974-C-A
gnomAD v3:
6-32040197-C-A
gnomAD v4:
6-32040197-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040197C>A , CM000668.2:g.32040197C>A | GRCh38 |
| NC_000006.11:g.32007974C>A , CM000668.1:g.32007974C>A | GRCh37 |
| NC_000006.10:g.32115953C>A | NCBI36 |
| NG_007941.2:g.6890C>A | |
| NG_008337.2:g.74178G>T | |
| NG_007941.3:g.6893C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.931C>A MANE Select | ENSP00000496625.1:p.His311Asn | |
| ENST00000418967.6:c.931C>A | ENSP00000408860.2:p.His311Asn | |
| ENST00000435122.3:c.841C>A | ENSP00000415043.2:p.His281Asn | |
| ENST00000479074.5:n.989C>A | ||
| ENST00000479730.5:n.1047C>A | ||
| ENST00000483041.5:n.1100C>A | ||
| ENST00000486063.5:n.919-209C>A | ||
| NM_000500.7:c.931C>A | NP_000491.4:p.His311Asn | |
| NM_001128590.3:c.841C>A | NP_001122062.3:p.His281Asn | |
| XM_011514314.1:c.526C>A | XP_011512616.1:p.His176Asn | |
| NM_000500.9:c.931C>A MANE Select | NP_000491.4:p.His311Asn | |
| NM_001368143.1:c.526C>A | NP_001355072.1:p.His176Asn | |
| NM_001368144.1:c.526C>A | NP_001355073.1:p.His176Asn | |
| NM_001128590.4:c.841C>A | NP_001122062.3:p.His281Asn | |
| NM_001368143.2:c.526C>A | NP_001355072.1:p.His176Asn | |
| NM_001368144.2:c.526C>A | NP_001355073.1:p.His176Asn |