Linked Data
ClinVar Variation Id:
17169
ClinVar RCV Id:
RCV000018709
dbSNP Id:
rs121912934
PubMed:
PMID:8782832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45998399G>T , CM000683.2:g.45998399G>T | GRCh38 |
| NC_000021.8:g.47418313G>T , CM000683.1:g.47418313G>T | GRCh37 |
| NC_000021.7:g.46242741G>T | NCBI36 |
| NG_008674.1:g.21651G>T , LRG_475:g.21651G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.352G>T | ||
| ENST00000361866.8:c.1577G>T MANE Select | ENSP00000355180.3:p.Gly526Val | |
| ENST00000361866.7:c.1577G>T | ENSP00000355180.3:p.Gly526Val | |
| ENST00000612273.1:c.1577G>T | ENSP00000483630.1:p.Gly526Val | |
| NM_001848.2:c.1577G>T , LRG_475t1:c.1577G>T | NP_001839.2:p.Gly526Val | |
| NM_001848.3:c.1577G>T MANE Select | NP_001839.2:p.Gly526Val |