Linked Data
ClinVar Variation Id:
13612
ClinVar RCV Id:
RCV000014582
dbSNP Id:
rs104893763
PubMed:
PMID:12629113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87264294T>A , CM000665.2:g.87264294T>A | GRCh38 |
| NC_000003.11:g.87313444T>A , CM000665.1:g.87313444T>A | GRCh37 |
| NC_000003.10:g.87396134T>A | NCBI36 |
| NG_008225.2:g.17294A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.511A>T | ENSP00000342931.3:p.Lys171Ter | |
| ENST00000350375.7:c.433A>T MANE Select | ENSP00000263781.2:p.Lys145Ter | |
| ENST00000344265.7:c.511A>T | ENSP00000342931.3:p.Lys171Ter | |
| ENST00000350375.6:c.433A>T | ENSP00000263781.2:p.Lys145Ter | |
| ENST00000560656.1:c.433A>T | ENSP00000452610.1:p.Lys145Ter | |
| ENST00000561167.5:c.215-2059A>T | ENSP00000454072.1:n.215-2059A>T | |
| NM_000306.3:c.433A>T | NP_000297.1:p.Lys145Ter | |
| NM_001122757.2:c.511A>T | NP_001116229.1:p.Lys171Ter | |
| NM_000306.4:c.433A>T MANE Select | NP_000297.1:p.Lys145Ter | |
| NM_001122757.3:c.511A>T | NP_001116229.1:p.Lys171Ter |