Linked Data
ClinVar Variation Id:
5217
ClinVar RCV Id:
RCV000005527
dbSNP Id:
rs104894001
gnomAD v2:
6-41129260-C-T
gnomAD v3:
6-41161522-C-T
gnomAD v4:
6-41161522-C-T
PubMed:
PMID:12080485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161522C>T , CM000668.2:g.41161522C>T | GRCh38 |
| NC_000006.11:g.41129260C>T , CM000668.1:g.41129260C>T | GRCh37 |
| NC_000006.10:g.41237238C>T | NCBI36 |
| NG_011561.1:g.6663G>A , LRG_631:g.6663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.132G>A MANE Select | ENSP00000362205.3:p.Trp44Ter | |
| ENST00000338469.3:c.132G>A | ENSP00000342651.4:p.Trp44Ter | |
| ENST00000373113.7:c.132G>A | ENSP00000362205.3:p.Trp44Ter | |
| ENST00000373122.8:c.132G>A | ENSP00000362214.4:p.Trp44Ter | |
| NM_001271821.1:c.132G>A | NP_001258750.1:p.Trp44Ter | |
| NM_018965.3:c.132G>A , LRG_631t1:c.132G>A | NP_061838.1:p.Trp44Ter | |
| XM_006715116.2:c.130+1521G>A | XP_006715179.1:n.130+1521G>A | |
| XR_926795.1:n.222+5959C>T | ||
| XR_926796.1:n.214+5959C>T | ||
| XR_926797.1:n.188+5959C>T | ||
| XR_926795.2:n.517+5959C>T | ||
| XR_926797.2:n.232+5959C>T | ||
| NM_001271821.2:c.132G>A | NP_001258750.1:p.Trp44Ter | |
| NM_018965.4:c.132G>A MANE Select | NP_061838.1:p.Trp44Ter |