Linked Data
ClinVar Variation Id:
64373
ClinVar RCV Id:
RCV000054559
dbSNP Id:
rs397514750
COSMIC:
COSM6312171
PubMed:
PMID:22973972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2650382G>T , CM000671.2:g.2650382G>T | GRCh38 |
| NC_000009.11:g.2650382G>T , CM000671.1:g.2650382G>T | GRCh37 |
| NC_000009.10:g.2640382G>T | NCBI36 |
| NG_012741.1:g.33590G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382099.3:c.1675G>T | ||
| ENST00000382100.8:c.2117G>T MANE Select | ENSP00000371532.2:p.Cys706Phe | |
| ENST00000679488.1:n.1543G>T | ||
| ENST00000679718.1:n.1353G>T | ||
| ENST00000679750.1:n.1533G>T | ||
| ENST00000679780.1:n.893G>T | ||
| ENST00000679851.1:n.2916G>T | ||
| ENST00000680021.1:n.2317G>T | ||
| ENST00000680043.1:c.1669G>T | ||
| ENST00000680219.1:c.1684G>T | ||
| ENST00000680243.1:c.*1756G>T | ENSP00000505911.1:n.*1756G>T | |
| ENST00000680296.1:c.1543G>T | ||
| ENST00000680332.1:n.1750G>T | ||
| ENST00000680440.1:n.257G>T | ||
| ENST00000680746.1:c.1994G>T | ENSP00000505030.1:p.Cys665Phe | |
| ENST00000680751.1:n.1522G>T | ||
| ENST00000680891.1:c.*1909G>T | ENSP00000505167.1:n.*1909G>T | |
| ENST00000680975.1:n.1502G>T | ||
| ENST00000681087.1:n.1422G>T | ||
| ENST00000681306.1:c.2117G>T | ENSP00000506072.1:p.Cys706Phe | |
| ENST00000681486.1:n.217G>T | ||
| ENST00000681618.1:c.1994G>T | ENSP00000505773.1:p.Cys665Phe | |
| ENST00000681644.1:c.*1789G>T | ENSP00000505180.1:n.*1789G>T | |
| ENST00000681806.1:c.*555G>T | ENSP00000505282.1:n.*555G>T | |
| ENST00000681942.1:c.1600G>T | ||
| ENST00000382099.2:c.2117G>T | ENSP00000371531.2:p.Cys706Phe | |
| ENST00000382100.7:c.2117G>T | ENSP00000371532.2:p.Cys706Phe | |
| NM_001018056.1:c.2117G>T | NP_001018066.1:p.Cys706Phe | |
| NM_003383.3:c.2117G>T | NP_003374.3:p.Cys706Phe | |
| XM_011518029.1:c.1994G>T | XP_011516331.1:p.Cys665Phe | |
| NM_001018056.2:c.2117G>T | NP_001018066.1:p.Cys706Phe | |
| NM_001322225.1:c.1994G>T | NP_001309154.1:p.Cys665Phe | |
| NM_001322226.1:c.1994G>T | NP_001309155.1:p.Cys665Phe | |
| NM_003383.4:c.2117G>T | NP_003374.3:p.Cys706Phe | |
| XR_001746373.2:n.2456G>T | ||
| XR_002956805.1:n.2456G>T | ||
| NM_003383.5:c.2117G>T MANE Select | NP_003374.3:p.Cys706Phe | |
| NM_001018056.3:c.2117G>T | NP_001018066.1:p.Cys706Phe | |
| NM_001322225.2:c.1994G>T | NP_001309154.1:p.Cys665Phe | |
| NM_001322226.2:c.1994G>T | NP_001309155.1:p.Cys665Phe |