Linked Data
ClinVar Variation Id:
5312
ClinVar RCV Id:
RCV000005637
dbSNP Id:
rs74315397
PubMed:
PMID:10973238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412723A>T , CM000682.2:g.10412723A>T | GRCh38 |
| NC_000020.10:g.10393371A>T , CM000682.1:g.10393371A>T | GRCh37 |
| NC_000020.9:g.10341371A>T | NCBI36 |
| NG_009109.1:g.26496T>A | |
| NG_009109.2:g.26496T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.792T>A | ENSP00000498849.1:p.Tyr264Ter | |
| ENST00000652676.1:n.459-23T>A | ||
| ENST00000347364.7:c.792T>A MANE Select | ENSP00000246062.4:p.Tyr264Ter | |
| ENST00000399054.6:c.792T>A | ENSP00000382008.2:p.Tyr264Ter | |
| NM_018848.3:c.792T>A | NP_061336.1:p.Tyr264Ter | |
| NM_170784.2:c.792T>A | NP_740754.1:p.Tyr264Ter | |
| NR_072977.1:n.364-3920T>A | ||
| NR_072977.2:n.347-3920T>A | ||
| NM_170784.3:c.792T>A MANE Select | NP_740754.1:p.Tyr264Ter |