Linked Data
ClinVar Variation Id:
177938
ClinVar RCV Id:
RCV000154597
dbSNP Id:
rs727504410
PubMed:
PMID:24793577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428457G>A , CM000677.2:g.48428457G>A | GRCh38 |
| NC_000015.9:g.48720654G>A , CM000677.1:g.48720654G>A | GRCh37 |
| NC_000015.8:g.46507946G>A | NCBI36 |
| NG_008805.2:g.222332C>T , LRG_778:g.222332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6886C>T | ENSP00000453958.2:p.Gln2296Ter | |
| ENST00000674301.2:c.*337C>T | ENSP00000501333.2:n.*337C>T | |
| ENST00000682170.1:n.495C>T | ||
| ENST00000682767.1:n.121C>T | ||
| ENST00000316623.10:c.6886C>T MANE Select | ENSP00000325527.5:p.Gln2296Ter | |
| ENST00000674301.1:c.1990C>T | ENSP00000501333.1:n.1990C>T | |
| ENST00000316623.9:c.6886C>T | ENSP00000325527.5:p.Gln2296Ter | |
| ENST00000559133.5:c.2193C>T | ||
| ENST00000560720.1:n.173C>T | ||
| NM_000138.4:c.6886C>T , LRG_778t1:c.6886C>T | NP_000129.3:p.Gln2296Ter | |
| NM_000138.5:c.6886C>T MANE Select | NP_000129.3:p.Gln2296Ter |