Linked Data
ClinVar Variation Id:
132127
ClinVar RCV Id:
RCV000119014
dbSNP Id:
rs515726200
PubMed:
PMID:24741716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208237C>A , CM000670.2:g.102208237C>A | GRCh38 |
| NC_000008.10:g.103220465C>A , CM000670.1:g.103220465C>A | GRCh37 |
| NC_000008.9:g.103289641C>A | NCBI36 |
| NG_016617.1:g.35882G>T , LRG_788:g.35882G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.952G>T MANE Select | ENSP00000251810.3:p.Glu318Ter | |
| ENST00000251810.7:c.952G>T | ENSP00000251810.3:p.Glu318Ter | |
| ENST00000395910.6:n.339G>T | ||
| ENST00000395912.6:c.796G>T | ENSP00000379248.2:p.Glu266Ter | |
| ENST00000519317.5:c.316G>T | ENSP00000430641.1:p.Glu106Ter | |
| ENST00000519962.5:c.97G>T | ENSP00000429140.1:p.Glu33Ter | |
| ENST00000522368.5:c.1121G>T | ||
| ENST00000522394.1:c.285G>T | ENSP00000429578.1:n.285G>T | |
| ENST00000621845.1:c.790G>T | ENSP00000484318.1:p.Glu264Ter | |
| NM_001172477.1:c.1168G>T , LRG_788t1:c.1168G>T | NP_001165948.1:p.Glu390Ter | |
| NM_001172478.1:c.796G>T | NP_001165949.1:p.Glu266Ter | |
| NM_015713.4:c.952G>T , LRG_788t2:c.952G>T | NP_056528.2:p.Glu318Ter | |
| NM_001172478.2:c.796G>T | NP_001165949.1:p.Glu266Ter | |
| NM_015713.5:c.952G>T MANE Select | NP_056528.2:p.Glu318Ter |