Linked Data
ClinVar Variation Id:
50259
ClinVar RCV Id:
RCV000043494
dbSNP Id:
rs387907355
gnomAD v4:
12-48980630-G-T
PubMed:
PMID:23499309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48980630G>T , CM000674.2:g.48980630G>T | GRCh38 |
| NC_000012.11:g.49374413G>T , CM000674.1:g.49374413G>T | GRCh37 |
| NC_000012.10:g.47660680G>T | NCBI36 |
| NG_033141.1:g.7178G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.565G>T MANE Select | ENSP00000293549.3:p.Glu189Ter | |
| ENST00000293549.3:c.565G>T | ENSP00000293549.3:p.Glu189Ter | |
| ENST00000613114.4:c.565G>T | ENSP00000481240.1:p.Glu189Ter | |
| NM_005430.3:c.565G>T | NP_005421.1:p.Glu189Ter | |
| NM_005430.4:c.565G>T MANE Select | NP_005421.1:p.Glu189Ter |