Linked Data
ClinVar Variation Id:
2506599
ClinVar RCV Id:
RCV003236968
MyVariant Identifiers:
chr9:g.133352513A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352513A>T , CM000671.2:g.133352513A>T | GRCh38 |
| NC_000009.10:g.135209189A>T | NCBI36 |
| NG_008477.1:g.8994T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.684T>A MANE Select | ENSP00000361042.3:p.His228Gln | |
| ENST00000371974.7:c.684T>A | ENSP00000361042.3:p.His228Gln | |
| ENST00000437995.1:n.594T>A | ||
| ENST00000495952.5:n.674T>A | ||
| ENST00000615505.4:c.357T>A | ENSP00000482067.1:p.His119Gln | |
| NM_001280787.1:c.357T>A | NP_001267716.1:p.His119Gln | |
| NM_003172.3:c.684T>A | NP_003163.1:p.His228Gln | |
| XM_011518942.1:c.357T>A | XP_011517244.1:p.His119Gln | |
| NM_003172.4:c.684T>A MANE Select | NP_003163.1:p.His228Gln |