Linked Data
ClinVar Variation Id:
568307
ClinVar RCV Id:
RCV002289963
dbSNP Id:
rs121913663
ExAC:
8:24813612 C / T
gnomAD v2:
8-24813612-C-T
gnomAD v3:
8-24956098-C-T
gnomAD v4:
8-24956098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956098C>T , CM000670.2:g.24956098C>T | GRCh38 |
| NC_000008.10:g.24813612C>T , CM000670.1:g.24813612C>T | GRCh37 |
| NC_000008.9:g.24869529C>T | NCBI36 |
| NG_008492.1:g.5520G>A , LRG_259:g.5520G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000610854.2:c.418G>A MANE Select | ENSP00000482169.2:p.Glu140Lys | |
| ENST00000610854.1:c.418G>A | ENSP00000482169.1:p.Glu140Lys | |
| ENST00000615973.1:n.624G>A | ||
| ENST00000619417.1:c.418G>A | ENSP00000483690.1:p.Glu140Lys | |
| NM_006158.4:c.418G>A , LRG_259t1:c.418G>A | NP_006149.2:p.Glu140Lys | |
| NM_006158.5:c.418G>A MANE Select | NP_006149.2:p.Glu140Lys |