Linked Data
ClinVar Variation Id:
376120
ClinVar RCV Id:
RCV000430721
dbSNP Id:
rs1057519773
COSMIC:
COSM211607
PubMed:
PMID:21562040
CIViC:
CA16602578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872901T>G , CM000671.2:g.130872901T>G | GRCh38 |
| NC_000009.11:g.133748288T>G , CM000671.1:g.133748288T>G | GRCh37 |
| NC_000009.10:g.132738109T>G | NCBI36 |
| NG_012034.1:g.164021T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1006T>G | ENSP00000361423.2:p.Phe336Val | |
| ENST00000318560.6:c.949T>G MANE Select | ENSP00000323315.5:p.Phe317Val | |
| ENST00000372348.7:c.1006T>G | ENSP00000361423.2:p.Phe336Val | |
| ENST00000318560.5:c.949T>G | ENSP00000323315.5:p.Phe317Val | |
| ENST00000372348.6:c.1006T>G | ENSP00000361423.2:p.Phe336Val | |
| NM_005157.5:c.949T>G | NP_005148.2:p.Phe317Val | |
| NM_007313.2:c.1006T>G | NP_009297.2:p.Phe336Val | |
| NM_005157.6:c.949T>G MANE Select | NP_005148.2:p.Phe317Val | |
| NM_007313.3:c.1006T>G | NP_009297.2:p.Phe336Val |