Linked Data
ClinVar Variation Id:
8764
ClinVar RCV Id:
RCV000009309
dbSNP Id:
rs121918538
PubMed:
PMID:19615668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93626667T>A , CM000672.2:g.93626667T>A | GRCh38 |
| NC_000010.10:g.95386424T>A , CM000672.1:g.95386424T>A | GRCh37 |
| NC_000010.9:g.95376414T>A | NCBI36 |
| NG_016752.1:g.19080T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371447.4:c.967T>A MANE Select | ENSP00000360502.3:p.Tyr323Asn | |
| ENST00000371447.3:c.967T>A | ENSP00000360502.3:p.Tyr323Asn | |
| NM_006204.3:c.967T>A | NP_006195.3:p.Tyr323Asn | |
| NM_006204.4:c.967T>A MANE Select | NP_006195.3:p.Tyr323Asn |