Linked Data
ClinVar Variation Id:
369981
ClinVar RCV Id:
RCV000408890
dbSNP Id:
rs876661155
gnomAD v4:
8-24956029-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956029C>A , CM000670.2:g.24956029C>A | GRCh38 |
| NC_000008.10:g.24813543C>A , CM000670.1:g.24813543C>A | GRCh37 |
| NC_000008.9:g.24869460C>A | NCBI36 |
| NG_008492.1:g.5589G>T , LRG_259:g.5589G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.487G>T MANE Select | ENSP00000482169.2:p.Glu163Ter | |
| ENST00000610854.1:c.487G>T | ENSP00000482169.1:p.Glu163Ter | |
| ENST00000615973.1:n.693G>T | ||
| ENST00000619417.1:c.487G>T | ENSP00000483690.1:p.Glu163Ter | |
| NM_006158.4:c.487G>T , LRG_259t1:c.487G>T | NP_006149.2:p.Glu163Ter | |
| NM_006158.5:c.487G>T MANE Select | NP_006149.2:p.Glu163Ter |