Linked Data
ClinVar Variation Id:
161841
ClinVar RCV Id:
RCV000149377
dbSNP Id:
rs193921101
gnomAD v4:
3-167527959-G-T
COSMIC:
COSM1178303
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167527959G>T , CM000665.2:g.167527959G>T | GRCh38 |
| NC_000003.11:g.167245747G>T , CM000665.1:g.167245747G>T | GRCh37 |
| NC_000003.10:g.168728441G>T | NCBI36 |
| NG_053014.1:g.135045C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647816.2:c.2432C>A | ENSP00000497120.1:p.Ser811Ter | |
| ENST00000682715.1:c.2465C>A MANE Select | ENSP00000507497.1:p.Ser822Ter | |
| ENST00000472600.6:c.1800+1093C>A | ENSP00000419130.2:n.1800+1093C>A | |
| ENST00000647816.1:c.2432C>A | ENSP00000497120.1:p.Ser811Ter | |
| ENST00000308378.7:c.1409C>A | ENSP00000311343.3:p.Ser470Ter | |
| ENST00000472600.5:c.1577+1093C>A | ||
| ENST00000476376.5:n.1120C>A | ||
| ENST00000479765.5:c.*17+38871C>A | ENSP00000419749.1:n.*17+38871C>A | |
| ENST00000493061.1:c.263+1093C>A | ||
| NM_178824.3:c.1409C>A | NP_849146.1:p.Ser470Ter | |
| NM_001348951.1:c.2432C>A | NP_001335880.1:p.Ser811Ter | |
| NM_001348952.1:c.2432C>A | NP_001335881.1:p.Ser811Ter | |
| NM_001366157.1:c.2465C>A MANE Select | NP_001353086.1:p.Ser822Ter | |
| NM_001366158.1:c.1409C>A | NP_001353087.1:p.Ser470Ter | |
| NM_001348951.2:c.2432C>A | NP_001335880.1:p.Ser811Ter | |
| NM_001348952.2:c.2432C>A | NP_001335881.1:p.Ser811Ter |