Linked Data
ClinVar Variation Id:
553483
ClinVar RCV Id:
RCV000668950
dbSNP Id:
rs868834862
COSMIC:
COSM6110757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089173C>T , CM000669.2:g.66089173C>T | GRCh38 |
| NC_000007.13:g.65554160C>T , CM000669.1:g.65554160C>T | GRCh37 |
| NC_000007.12:g.65191595C>T | NCBI36 |
| NG_009288.1:g.18385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.916C>T MANE Select | ENSP00000307188.9:p.Arg306Trp | |
| ENST00000362000.10:c.721C>T | ENSP00000354710.6:p.Arg241Trp | |
| ENST00000380839.9:c.838C>T | ENSP00000370219.4:p.Arg280Trp | |
| ENST00000395331.4:c.916C>T | ENSP00000378740.3:p.Arg306Trp | |
| ENST00000395332.8:c.916C>T | ENSP00000378741.3:p.Arg306Trp | |
| ENST00000488343.2:c.85C>T | ENSP00000500864.1:p.Arg29Trp | |
| ENST00000671817.1:c.838C>T | ENSP00000500462.1:p.Arg280Trp | |
| ENST00000672498.1:c.*215C>T | ENSP00000500227.1:n.*215C>T | |
| ENST00000672586.1:n.1675C>T | ||
| ENST00000672676.1:n.1940C>T | ||
| ENST00000673149.1:n.728C>T | ||
| ENST00000673350.1:n.3033C>T | ||
| ENST00000673518.1:c.838C>T | ENSP00000499889.1:p.Arg280Trp | |
| ENST00000304874.13:c.916C>T | ENSP00000307188.9:p.Arg306Trp | |
| ENST00000362000.9:c.721C>T | ENSP00000354710.5:p.Arg241Trp | |
| ENST00000380839.8:c.838C>T | ENSP00000370219.4:p.Arg280Trp | |
| ENST00000395331.3:c.916C>T | ENSP00000378740.3:p.Arg306Trp | |
| ENST00000395332.7:c.916C>T | ENSP00000378741.3:p.Arg306Trp | |
| ENST00000450043.2:c.229C>T | ENSP00000396527.2:p.Arg77Trp | |
| ENST00000488343.1:n.85C>T | ||
| ENST00000493708.5:n.297C>T | ||
| NM_000048.3:c.916C>T | NP_000039.2:p.Arg306Trp | |
| NM_001024943.1:c.916C>T | NP_001020114.1:p.Arg306Trp | |
| NM_001024944.1:c.916C>T | NP_001020115.1:p.Arg306Trp | |
| NM_001024946.1:c.838C>T | NP_001020117.1:p.Arg280Trp | |
| NM_000048.4:c.916C>T MANE Select | NP_000039.2:p.Arg306Trp | |
| NM_001024943.2:c.916C>T | NP_001020114.1:p.Arg306Trp | |
| NM_001024944.2:c.916C>T | NP_001020115.1:p.Arg306Trp | |
| NM_001024946.2:c.838C>T | NP_001020117.1:p.Arg280Trp |