Linked Data
ClinVar Variation Id:
100651
ClinVar RCV Id:
RCV000087051
dbSNP Id:
rs587777130
PubMed:
PMID:23236030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232482887G>C , CM000664.2:g.232482887G>C | GRCh38 |
| NC_000002.11:g.233347597G>C , CM000664.1:g.233347597G>C | GRCh37 |
| NC_000002.10:g.233055841G>C | NCBI36 |
| NG_034065.1:g.9973C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.1649C>G MANE Select | ENSP00000302051.1:p.Ser550Ter | |
| ENST00000304546.5:c.1649C>G | ENSP00000302051.1:p.Ser550Ter | |
| ENST00000409941.1:c.1649C>G | ENSP00000386333.1:p.Ser550Ter | |
| ENST00000482346.1:n.1960C>G | ||
| NM_001290787.1:c.1649C>G | NP_001277716.1:p.Ser550Ter | |
| NM_004826.3:c.1649C>G | NP_004817.2:p.Ser550Ter | |
| NM_004826.4:c.1649C>G MANE Select | NP_004817.2:p.Ser550Ter | |
| NM_001290787.2:c.1649C>G | NP_001277716.1:p.Ser550Ter |