Linked Data
ClinVar Variation Id:
10959
ClinVar RCV Id:
RCV000011706
dbSNP Id:
rs104894895
PubMed:
PMID:8855822
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308551G>C , CM000685.2:g.30308551G>C | GRCh38 |
| NC_000023.10:g.30326668G>C , CM000685.1:g.30326668G>C | GRCh37 |
| NC_000023.9:g.30236589G>C | NCBI36 |
| NG_009814.1:g.5828C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.813C>G MANE Select | ENSP00000368253.4:p.Tyr271Ter | |
| ENST00000378970.4:c.813C>G | ENSP00000368253.4:p.Tyr271Ter | |
| NM_000475.4:c.813C>G | NP_000466.2:p.Tyr271Ter | |
| NM_000475.5:c.813C>G MANE Select | NP_000466.2:p.Tyr271Ter |