Linked Data
ClinVar Variation Id:
427758
ClinVar RCV Id:
RCV000490724
dbSNP Id:
rs45619342
COSMIC:
COSM5377532
PubMed:
PMID:18334966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908782C>T , CM000663.2:g.147908782C>T | GRCh38 |
| NC_000001.10:g.147380909C>T , CM000663.1:g.147380909C>T | GRCh37 |
| NC_000001.9:g.145847533C>T | NCBI36 |
| NG_016242.1:g.10964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.827C>T MANE Select | ENSP00000358238.1:p.Ser276Phe | |
| ENST00000369235.1:c.827C>T | ENSP00000358238.1:p.Ser276Phe | |
| NM_005267.4:c.827C>T | NP_005258.2:p.Ser276Phe | |
| XM_011509416.1:c.827C>T | XP_011507718.1:p.Ser276Phe | |
| XM_011509417.1:c.827C>T | XP_011507719.1:p.Ser276Phe | |
| XR_922072.1:n.1317-23G>A | ||
| XR_922073.1:n.981-23G>A | ||
| XR_922074.1:n.2051-23G>A | ||
| XR_922075.1:n.938-23G>A | ||
| XR_922076.1:n.532-23G>A | ||
| XM_011509417.2:c.827C>T | XP_011507719.1:p.Ser276Phe | |
| XR_001737732.2:n.2378-23G>A | ||
| XR_001737733.2:n.2335-23G>A | ||
| XR_001737734.2:n.1929-23G>A | ||
| XR_002956281.1:n.1742C>T | ||
| XR_922072.2:n.1324-23G>A | ||
| XR_922074.3:n.2714-23G>A | ||
| NM_005267.5:c.827C>T MANE Select | NP_005258.2:p.Ser276Phe |