Linked Data
ClinVar Variation Id:
376446
dbSNP Id:
rs1057519728
COSMIC:
COSM5077832
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66435103T>G , CM000677.2:g.66435103T>G | GRCh38 |
| NC_000015.9:g.66727441T>G , CM000677.1:g.66727441T>G | GRCh37 |
| NC_000015.8:g.64514495T>G | NCBI36 |
| NG_008305.1:g.53231T>G , LRG_725:g.53231T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.91T>G | ENSP00000508681.1:p.Phe31Val | |
| ENST00000685172.1:c.157T>G | ENSP00000509604.1:p.Phe53Val | |
| ENST00000685763.1:c.157T>G | ENSP00000509016.1:p.Phe53Val | |
| ENST00000686347.1:c.157T>G | ENSP00000509027.1:p.Phe53Val | |
| ENST00000687191.1:n.593T>G | ||
| ENST00000689951.1:c.157T>G | ENSP00000509308.1:p.Phe53Val | |
| ENST00000691077.1:c.157T>G | ENSP00000509843.1:p.Phe53Val | |
| ENST00000691576.1:c.157T>G | ENSP00000510066.1:p.Phe53Val | |
| ENST00000691937.1:c.157T>G | ENSP00000508768.1:p.Phe53Val | |
| ENST00000692487.1:c.157T>G | ENSP00000509534.1:p.Phe53Val | |
| ENST00000692683.1:c.91T>G | ENSP00000508437.1:p.Phe31Val | |
| ENST00000693150.1:c.91T>G | ENSP00000510309.1:p.Phe31Val | |
| ENST00000307102.10:c.157T>G MANE Select | ENSP00000302486.5:p.Phe53Val | |
| ENST00000307102.9:c.157T>G | ENSP00000302486.4:p.Phe53Val | |
| ENST00000425818.2:n.668T>G | ||
| NM_002755.3:c.157T>G , LRG_725t1:c.157T>G | NP_002746.1:p.Phe53Val | |
| XM_011521783.1:c.91T>G | XP_011520085.1:p.Phe31Val | |
| XM_011521783.3:c.91T>G | XP_011520085.1:p.Phe31Val | |
| XM_017022411.2:c.157T>G | XP_016877900.1:p.Phe53Val | |
| XM_017022412.1:c.91T>G | XP_016877901.1:p.Phe31Val | |
| NM_002755.4:c.157T>G MANE Select | NP_002746.1:p.Phe53Val |