Linked Data
ClinVar Variation Id:
13314
ClinVar RCV Id:
RCV002468932
dbSNP Id:
rs121918486
PubMed:
PMID:16487178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46739324C>G , CM000673.2:g.46739324C>G | GRCh38 |
| NC_000011.9:g.46760874C>G , CM000673.1:g.46760874C>G | GRCh37 |
| NC_000011.8:g.46717450C>G | NCBI36 |
| NG_008953.1:g.25132C>G , LRG_551:g.25132C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.1785C>G MANE Select | ENSP00000308541.5:p.Asp595Glu | |
| ENST00000311907.9:c.1785C>G | ENSP00000308541.5:p.Asp595Glu | |
| ENST00000530231.5:c.1668C>G | ENSP00000433907.1:p.Asp556Glu | |
| NM_000506.3:c.1785C>G | NP_000497.1:p.Asp595Glu | |
| NM_000506.4:c.1785C>G , LRG_551t1:c.1785C>G | NP_000497.1:p.Asp595Glu | |
| NM_001311257.1:c.1737C>G | NP_001298186.1:p.Asp579Glu | |
| XR_428840.2:n.1647C>G | ||
| XR_428840.4:n.1638C>G | ||
| NM_000506.5:c.1785C>G MANE Select | NP_000497.1:p.Asp595Glu | |
| NM_001311257.2:c.1737C>G | NP_001298186.1:p.Asp579Glu |