Linked Data
ClinVar Variation Id:
774774
ClinVar RCV Id:
RCV000954819
dbSNP Id:
rs235330
gnomAD v3:
21-44894992-A-T
gnomAD v4:
21-44894992-A-T
MyVariant Identifiers:
chr21:g.44894992A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44894992A>T , CM000683.2:g.44894992A>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302347.10:c.1134T>A | ENSP00000303242.6:p.His378Gln | |
| ENST00000652462.1:c.1062T>A MANE Select | ENSP00000498780.1:p.His354Gln | |
| ENST00000302347.9:c.1062T>A | ENSP00000303242.5:p.His354Gln | |
| ENST00000355153.8:c.1062T>A | ENSP00000347279.4:p.His354Gln | |
| ENST00000397850.6:c.1062T>A | ENSP00000380948.2:p.His354Gln | |
| ENST00000397852.5:c.1062T>A | ENSP00000380950.1:p.His354Gln | |
| ENST00000397854.7:c.891T>A | ENSP00000380952.3:p.His297Gln | |
| ENST00000397857.5:c.1062T>A | ENSP00000380955.1:p.His354Gln | |
| ENST00000498666.5:n.1205T>A | ||
| ENST00000523323.5:c.*889T>A | ENSP00000427732.1:n.*889T>A | |
| ENST00000610622.4:c.891T>A | ENSP00000480700.1:p.His297Gln | |
| NM_000211.4:c.1062T>A | NP_000202.3:p.His354Gln | |
| NM_001127491.2:c.1062T>A | NP_001120963.2:p.His354Gln | |
| NM_001303238.1:c.855T>A | NP_001290167.1:p.His285Gln | |
| XM_006724001.1:c.855T>A | XP_006724064.1:p.His285Gln | |
| XM_006724001.2:c.855T>A | XP_006724064.1:p.His285Gln | |
| NM_000211.5:c.1062T>A MANE Select | NP_000202.3:p.His354Gln | |
| NM_001127491.3:c.1062T>A | NP_001120963.2:p.His354Gln | |
| NM_001303238.2:c.855T>A | NP_001290167.1:p.His285Gln |