Linked Data
ClinVar Variation Id:
792292
ClinVar RCV Id:
RCV000975384
dbSNP Id:
rs1277108659
gnomAD v3:
19-1106260-C-T
gnomAD v4:
19-1106260-C-T
COSMIC:
COSM362908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106260C>T , CM000681.2:g.1106260C>T | GRCh38 |
| NC_000019.9:g.1106259C>T , CM000681.1:g.1106259C>T | GRCh37 |
| NC_000019.8:g.1057259C>T | NCBI36 |
| NG_050621.1:g.7335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.606C>T | ENSP00000473614.3:p.Phe202= | |
| ENST00000593032.6:c.475C>T | ENSP00000465828.4:p.His159Tyr | |
| ENST00000706713.1:c.489C>T | ENSP00000516510.1:p.Phe163= | |
| ENST00000706714.1:c.475C>T | ENSP00000516511.1:p.His159Tyr | |
| ENST00000706715.1:c.111C>T | ENSP00000516512.1:p.Phe37= | |
| ENST00000354171.13:c.495C>T MANE Select | ENSP00000346103.7:p.Phe165= | |
| ENST00000589115.6:c.477-140C>T | ENSP00000466872.3:n.477-140C>T | |
| ENST00000354171.12:c.495C>T | ENSP00000346103.7:p.Phe165= | |
| ENST00000585480.1:c.228C>T | ENSP00000467900.1:p.Phe76= | |
| ENST00000587648.5:c.375C>T | ENSP00000468349.1:p.Phe125= | |
| ENST00000588919.5:c.414C>T | ENSP00000464989.3:p.Phe138= | |
| ENST00000589115.5:c.477-140C>T | ENSP00000466872.2:n.477-140C>T | |
| ENST00000592940.2:n.866C>T | ||
| ENST00000593032.5:c.475C>T | ENSP00000465828.3:p.His159Tyr | |
| ENST00000611653.4:c.414C>T | ENSP00000483655.1:p.Phe138= | |
| ENST00000616066.4:c.492C>T | ENSP00000485000.1:p.Phe164= | |
| ENST00000622390.4:c.603C>T | ENSP00000477503.1:p.Phe201= | |
| NM_001039847.2:c.495C>T | NP_001034936.1:p.Phe165= | |
| NM_001039848.2:c.606C>T | NP_001034937.1:p.Phe202= | |
| NM_002085.4:c.495C>T | NP_002076.2:p.Phe165= | |
| NM_001039848.3:c.606C>T | NP_001034937.1:p.Phe202= | |
| NM_001039847.3:c.495C>T | NP_001034936.1:p.Phe165= | |
| NM_001039848.4:c.606C>T | NP_001034937.1:p.Phe202= | |
| NM_001367832.1:c.414C>T | NP_001354761.1:p.Phe138= | |
| NM_002085.5:c.495C>T MANE Select | NP_002076.2:p.Phe165= |