Linked Data
ClinVar Variation Id:
528601
ClinVar RCV Id:
RCV000633823
dbSNP Id:
rs750282565
ExAC:
4:55127494 C / A
gnomAD v2:
4-55127494-C-A
gnomAD v3:
4-54261327-C-A
gnomAD v4:
4-54261327-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54261327C>A , CM000666.2:g.54261327C>A | GRCh38 |
| NC_000004.11:g.55127494C>A , CM000666.1:g.55127494C>A | GRCh37 |
| NC_000004.10:g.54822251C>A | NCBI36 |
| NG_009250.1:g.37231C>A , LRG_309:g.37231C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.282C>A MANE Select | ENSP00000257290.5:p.His94Gln | |
| ENST00000257290.9:c.282C>A | ENSP00000257290.5:p.His94Gln | |
| ENST00000503856.5:c.282C>A | ENSP00000425902.1:p.His94Gln | |
| ENST00000504461.5:c.282C>A | ENSP00000426472.1:p.His94Gln | |
| ENST00000507166.5:c.1018-13598C>A | ENSP00000423325.1:n.1018-13598C>A | |
| ENST00000508170.5:c.282C>A | ENSP00000425648.1:p.His94Gln | |
| ENST00000509092.5:n.186-2340C>A | ||
| ENST00000509490.5:c.282C>A | ENSP00000424218.1:p.His94Gln | |
| ENST00000512143.1:c.357C>A | ENSP00000425626.1:p.His119Gln | |
| ENST00000512522.1:c.282C>A | ENSP00000425232.1:p.His94Gln | |
| NM_006206.4:c.282C>A , LRG_309t1:c.282C>A | NP_006197.1:p.His94Gln | |
| XM_005265743.1:c.282C>A | XP_005265800.1:p.His94Gln | |
| XM_006714039.2:c.357C>A | XP_006714102.1:p.His119Gln | |
| XM_006714041.2:c.357C>A | XP_006714104.1:p.His119Gln | |
| XM_011534385.1:c.282C>A | XP_011532687.1:p.His94Gln | |
| XM_011534386.1:c.282C>A | XP_011532688.1:p.His94Gln | |
| NM_001347827.1:c.282C>A | NP_001334756.1:p.His94Gln | |
| NM_001347828.1:c.357C>A | NP_001334757.1:p.His119Gln | |
| NM_001347829.1:c.282C>A | NP_001334758.1:p.His94Gln | |
| NM_001347830.1:c.321C>A | NP_001334759.1:p.His107Gln | |
| NM_006206.5:c.282C>A | NP_006197.1:p.His94Gln | |
| XM_006714041.3:c.357C>A | XP_006714104.1:p.His119Gln | |
| XM_017008281.1:c.321C>A | XP_016863770.1:p.His107Gln | |
| NM_006206.6:c.282C>A MANE Select | NP_006197.1:p.His94Gln | |
| NM_001347827.2:c.282C>A | NP_001334756.1:p.His94Gln | |
| NM_001347828.2:c.357C>A | NP_001334757.1:p.His119Gln | |
| NM_001347829.2:c.282C>A | NP_001334758.1:p.His94Gln | |
| NM_001347830.2:c.321C>A | NP_001334759.1:p.His107Gln |