Linked Data
ClinVar Variation Id:
12766
ClinVar RCV Id:
RCV000013603
dbSNP Id:
rs121918658
MyVariant Identifiers:
chr9:g.133352074A>C (hg38)
PubMed:
PMID:10647889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352074A>C , CM000671.2:g.133352074A>C | GRCh38 |
| NC_000009.10:g.135208750A>C | NCBI36 |
| NG_008477.1:g.9433T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371974.8:c.820T>G MANE Select | ENSP00000361042.3:p.Tyr274Asp | |
| ENST00000371974.7:c.820T>G | ENSP00000361042.3:p.Tyr274Asp | |
| ENST00000437995.1:n.730T>G | ||
| ENST00000495952.5:n.810T>G | ||
| ENST00000615505.4:c.493T>G | ENSP00000482067.1:p.Tyr165Asp | |
| NM_001280787.1:c.493T>G | NP_001267716.1:p.Tyr165Asp | |
| NM_003172.3:c.820T>G | NP_003163.1:p.Tyr274Asp | |
| XM_011518942.1:c.493T>G | XP_011517244.1:p.Tyr165Asp | |
| NM_003172.4:c.820T>G MANE Select | NP_003163.1:p.Tyr274Asp |