Linked Data
ClinVar Variation Id:
42441
ClinVar RCV Id:
RCV000035287
dbSNP Id:
rs397515861
PubMed:
PMID:1631074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411339C>T , CM000677.2:g.48411339C>T | GRCh38 |
| NC_000015.9:g.48703536C>T , CM000677.1:g.48703536C>T | GRCh37 |
| NC_000015.8:g.46490828C>T | NCBI36 |
| NG_008805.2:g.239450G>A , LRG_778:g.239450G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1075G>A | ENSP00000453958.2:n.*1075G>A | |
| ENST00000674301.2:c.*1780G>A | ENSP00000501333.2:n.*1780G>A | |
| ENST00000682158.1:n.1648G>A | ||
| ENST00000682170.1:n.2448G>A | ||
| ENST00000682767.1:n.1564G>A | ||
| ENST00000316623.10:c.8267G>A MANE Select | ENSP00000325527.5:p.Trp2756Ter | |
| ENST00000674301.1:c.3433G>A | ENSP00000501333.1:n.3433G>A | |
| ENST00000316623.9:c.8267G>A | ENSP00000325527.5:p.Trp2756Ter | |
| ENST00000559133.5:c.3636G>A | ||
| ENST00000561429.1:n.522G>A | ||
| NM_000138.4:c.8267G>A , LRG_778t1:c.8267G>A | NP_000129.3:p.Trp2756Ter | |
| NM_000138.5:c.8267G>A MANE Select | NP_000129.3:p.Trp2756Ter |