Linked Data
ClinVar Variation Id:
457271
ClinVar RCV Id:
RCV000548361
dbSNP Id:
rs1555393551
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411271C>A , CM000677.2:g.48411271C>A | GRCh38 |
| NC_000015.9:g.48703468C>A , CM000677.1:g.48703468C>A | GRCh37 |
| NC_000015.8:g.46490760C>A | NCBI36 |
| NG_008805.2:g.239518G>T , LRG_778:g.239518G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1143G>T | ENSP00000453958.2:n.*1143G>T | |
| ENST00000674301.2:c.*1848G>T | ENSP00000501333.2:n.*1848G>T | |
| ENST00000682158.1:n.1716G>T | ||
| ENST00000682170.1:n.2516G>T | ||
| ENST00000682767.1:n.1632G>T | ||
| ENST00000316623.10:c.8335G>T MANE Select | ENSP00000325527.5:p.Glu2779Ter | |
| ENST00000674301.1:c.3501G>T | ENSP00000501333.1:n.3501G>T | |
| ENST00000316623.9:c.8335G>T | ENSP00000325527.5:p.Glu2779Ter | |
| ENST00000559133.5:c.3704G>T | ||
| ENST00000561429.1:n.590G>T | ||
| NM_000138.4:c.8335G>T , LRG_778t1:c.8335G>T | NP_000129.3:p.Glu2779Ter | |
| NM_000138.5:c.8335G>T MANE Select | NP_000129.3:p.Glu2779Ter |