Linked Data
ClinVar Variation Id:
10547
ClinVar RCV Id:
RCV000011293
dbSNP Id:
rs104894926
PubMed:
PMID:9697692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853826C>G , CM000685.2:g.46853826C>G | GRCh38 |
| NC_000023.10:g.46713261C>G , CM000685.1:g.46713261C>G | GRCh37 |
| NC_000023.9:g.46598205C>G | NCBI36 |
| NG_009107.1:g.21915C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.453C>G MANE Select | ENSP00000218340.3:p.Tyr151Ter | |
| ENST00000218340.3:c.453C>G | ENSP00000218340.3:p.Tyr151Ter | |
| NM_006915.2:c.453C>G | NP_008846.2:p.Tyr151Ter | |
| NM_006915.3:c.453C>G MANE Select | NP_008846.2:p.Tyr151Ter |