Linked Data
ClinVar Variation Id:
13312
ClinVar RCV Id:
RCV002468930
dbSNP Id:
rs121918484
ExAC:
11:46748311 G / A
gnomAD v2:
11-46748311-G-A
gnomAD v3:
11-46726761-G-A
gnomAD v4:
11-46726761-G-A
COSMIC:
COSM239762
PubMed:
PMID:10651742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726761G>A , CM000673.2:g.46726761G>A | GRCh38 |
| NC_000011.9:g.46748311G>A , CM000673.1:g.46748311G>A | GRCh37 |
| NC_000011.8:g.46704887G>A | NCBI36 |
| NG_008953.1:g.12569G>A , LRG_551:g.12569G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.1054G>A MANE Select | ENSP00000308541.5:p.Glu352Lys | |
| ENST00000311907.9:c.1054G>A | ENSP00000308541.5:p.Glu352Lys | |
| ENST00000530231.5:c.1054G>A | ENSP00000433907.1:p.Glu352Lys | |
| NM_000506.3:c.1054G>A | NP_000497.1:p.Glu352Lys | |
| NM_000506.4:c.1054G>A , LRG_551t1:c.1054G>A | NP_000497.1:p.Glu352Lys | |
| NM_001311257.1:c.1006G>A | NP_001298186.1:p.Glu336Lys | |
| XR_428840.2:n.1098G>A | ||
| XR_428840.4:n.1089G>A | ||
| NM_000506.5:c.1054G>A MANE Select | NP_000497.1:p.Glu352Lys | |
| NM_001311257.2:c.1006G>A | NP_001298186.1:p.Glu336Lys |