Linked Data
ClinVar Variation Id:
161193
ClinVar RCV Id:
RCV000148345
dbSNP Id:
rs606231452
PubMed:
PMID:25070513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535392G>C , CM000663.2:g.1535392G>C | GRCh38 |
| NC_000001.10:g.1470772G>C , CM000663.1:g.1470772G>C | GRCh37 |
| NC_000001.9:g.1460635G>C | NCBI36 |
| NG_041807.1:g.9969C>G | |
| NG_053035.1:g.28250G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.489C>G MANE Select | ENSP00000368007.4:p.Tyr163Ter | |
| ENST00000378733.8:c.489C>G | ENSP00000368007.4:p.Tyr163Ter | |
| ENST00000425828.1:c.489C>G | ENSP00000400311.1:p.Tyr163Ter | |
| NM_001114748.1:c.489C>G | NP_001108220.1:p.Tyr163Ter | |
| NM_001114748.2:c.489C>G MANE Select | NP_001108220.1:p.Tyr163Ter |