Linked Data
ClinVar Variation Id:
56808
ClinVar RCV Id:
RCV000050207
dbSNP Id:
rs398123038
PubMed:
PMID:23684010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32216609G>T , CM000682.2:g.32216609G>T | GRCh38 |
| NC_000020.10:g.30804412G>T , CM000682.1:g.30804412G>T | GRCh37 |
| NC_000020.9:g.30268073G>T | NCBI36 |
| NG_033906.1:g.13717G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706471.1:c.430G>T | ENSP00000516404.1:p.Glu144Ter | |
| ENST00000706472.1:c.*71G>T | ENSP00000516405.1:n.*71G>T | |
| ENST00000375749.8:c.430G>T MANE Select | ENSP00000364902.3:p.Glu144Ter | |
| ENST00000375730.3:c.430G>T | ENSP00000364882.3:p.Glu144Ter | |
| ENST00000375749.7:c.430G>T | ENSP00000364902.3:p.Glu144Ter | |
| ENST00000486717.5:n.315G>T | ||
| NM_015352.1:c.430G>T | NP_056167.1:p.Glu144Ter | |
| NM_172236.1:c.430G>T | NP_758436.1:p.Glu144Ter | |
| XR_430297.2:n.550G>T | ||
| XR_001754218.2:n.483G>T | ||
| NM_015352.2:c.430G>T MANE Select | NP_056167.1:p.Glu144Ter | |
| NM_172236.2:c.430G>T | NP_758436.1:p.Glu144Ter |