Linked Data
ClinVar Variation Id:
2537
ClinVar RCV Id:
RCV000002646
dbSNP Id:
rs104894372
PubMed:
PMID:17056637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941405G>T , CM000674.2:g.131941405G>T | GRCh38 |
| NC_000012.11:g.132425950G>T , CM000674.1:g.132425950G>T | GRCh37 |
| NC_000012.10:g.130991903G>T | NCBI36 |
| NG_013039.1:g.17206G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.658G>T MANE Select | ENSP00000365837.3:p.Glu220Ter | |
| ENST00000322060.9:c.574G>T | ENSP00000324726.5:p.Glu192Ter | |
| ENST00000376649.7:c.658G>T | ENSP00000365837.3:p.Glu220Ter | |
| ENST00000443358.6:c.574G>T | ENSP00000392451.2:p.Glu192Ter | |
| ENST00000535067.5:c.358-2134G>T | ENSP00000443969.1:n.358-2134G>T | |
| ENST00000537484.1:c.583G>T | ENSP00000440179.1:p.Glu195Ter | |
| ENST00000542167.2:c.499G>T | ENSP00000438948.1:p.Glu167Ter | |
| ENST00000543754.1:n.479G>T | ||
| NM_001002019.2:c.574G>T | NP_001002019.1:p.Glu192Ter | |
| NM_001002020.2:c.574G>T | NP_001002020.1:p.Glu192Ter | |
| NM_025215.5:c.658G>T | NP_079491.2:p.Glu220Ter | |
| XM_011538768.1:c.259G>T | XP_011537070.1:p.Glu87Ter | |
| XM_011538768.3:c.259G>T | XP_011537070.1:p.Glu87Ter | |
| XR_001748872.1:n.1113G>T | ||
| NM_001002019.3:c.574G>T | NP_001002019.1:p.Glu192Ter | |
| NM_001002020.3:c.574G>T | NP_001002020.1:p.Glu192Ter | |
| NM_025215.6:c.658G>T MANE Select | NP_079491.2:p.Glu220Ter |