Linked Data
ClinVar Variation Id:
7638
ClinVar RCV Id:
RCV000008077
dbSNP Id:
rs121909128
PubMed:
PMID:18783408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269136G>C , CM000680.2:g.59269136G>C | GRCh38 |
| NC_000018.9:g.56936368G>C , CM000680.1:g.56936368G>C | GRCh37 |
| NC_000018.8:g.55087348G>C | NCBI36 |
| NG_013031.1:g.9258C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334889.4:c.909C>G MANE Select | ENSP00000334813.3:p.Tyr303Ter | |
| ENST00000256852.7:c.*340C>G | ENSP00000256852.7:n.*340C>G | |
| ENST00000334889.3:c.909C>G | ENSP00000334813.3:p.Tyr303Ter | |
| NM_013435.2:c.909C>G | NP_038463.2:p.Tyr303Ter | |
| NM_013435.3:c.909C>G MANE Select | NP_038463.2:p.Tyr303Ter |