Linked Data
ClinVar Variation Id:
1777510
ClinVar RCV Id:
RCV002403847
dbSNP Id:
rs2108408479
gnomAD v4:
3-179218332-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218332C>A , CM000665.2:g.179218332C>A | GRCh38 |
| NC_000003.11:g.178936120C>A , CM000665.1:g.178936120C>A | GRCh37 |
| NC_000003.10:g.180418814C>A | NCBI36 |
| NG_012113.2:g.74810C>A , LRG_310:g.74810C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1662C>A MANE Select | ENSP00000263967.3:p.His554Gln | |
| ENST00000462255.2:n.124C>A | ||
| ENST00000643187.1:c.1662C>A | ENSP00000493507.1:p.His554Gln | |
| ENST00000674534.1:n.1416C>A | ||
| ENST00000674622.1:c.165C>A | ENSP00000502417.1:p.His55Gln | |
| ENST00000675467.1:n.4469C>A | ||
| ENST00000675786.1:c.*229C>A | ENSP00000502323.1:n.*229C>A | |
| ENST00000263967.3:c.1662C>A | ENSP00000263967.3:p.His554Gln | |
| NM_006218.2:c.1662C>A , LRG_310t1:c.1662C>A | NP_006209.2:p.His554Gln | |
| XM_006713658.2:c.1662C>A | XP_006713721.1:p.His554Gln | |
| XM_011512894.1:c.1662C>A | XP_011511196.1:p.His554Gln | |
| NM_006218.3:c.1662C>A | NP_006209.2:p.His554Gln | |
| XM_006713658.4:c.1662C>A | XP_006713721.1:p.His554Gln | |
| XM_011512894.2:c.1662C>A | XP_011511196.1:p.His554Gln | |
| NM_006218.4:c.1662C>A MANE Select | NP_006209.2:p.His554Gln |