Linked Data
ClinVar Variation Id:
14034
dbSNP Id:
rs121913663
gnomAD v2:
8-24813612-C-A
PubMed:
PMID:19158810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956098C>A , CM000670.2:g.24956098C>A | GRCh38 |
| NC_000008.10:g.24813612C>A , CM000670.1:g.24813612C>A | GRCh37 |
| NC_000008.9:g.24869529C>A | NCBI36 |
| NG_008492.1:g.5520G>T , LRG_259:g.5520G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.418G>T MANE Select | ENSP00000482169.2:p.Glu140Ter | |
| ENST00000610854.1:c.418G>T | ENSP00000482169.1:p.Glu140Ter | |
| ENST00000615973.1:n.624G>T | ||
| ENST00000619417.1:c.418G>T | ENSP00000483690.1:p.Glu140Ter | |
| NM_006158.4:c.418G>T , LRG_259t1:c.418G>T | NP_006149.2:p.Glu140Ter | |
| NM_006158.5:c.418G>T MANE Select | NP_006149.2:p.Glu140Ter |