Linked Data
ClinVar Variation Id:
464928
dbSNP Id:
rs1411999109
gnomAD v2:
8-24813234-C-T
gnomAD v4:
8-24955720-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24955720C>T , CM000670.2:g.24955720C>T | GRCh38 |
| NC_000008.10:g.24813234C>T , CM000670.1:g.24813234C>T | GRCh37 |
| NC_000008.9:g.24869151C>T | NCBI36 |
| NG_008492.1:g.5898G>A , LRG_259:g.5898G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.796G>A MANE Select | ENSP00000482169.2:p.Glu266Lys | |
| ENST00000610854.1:c.796G>A | ENSP00000482169.1:p.Glu266Lys | |
| ENST00000615973.1:n.1002G>A | ||
| ENST00000619417.1:c.593-76G>A | ENSP00000483690.1:n.593-76G>A | |
| NM_006158.4:c.796G>A , LRG_259t1:c.796G>A | NP_006149.2:p.Glu266Lys | |
| NM_006158.5:c.796G>A MANE Select | NP_006149.2:p.Glu266Lys |