Linked Data
ClinVar Variation Id:
53940
dbSNP Id:
rs397508711
gnomAD v2:
7-117307031-C-T
gnomAD v3:
7-117666977-C-T
gnomAD v4:
7-117666977-C-T
COSMIC:
COSM5406303
PubMed:
PMID:15858154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117666977C>T , CM000669.2:g.117666977C>T | GRCh38 |
| NC_000007.13:g.117307031C>T , CM000669.1:g.117307031C>T | GRCh37 |
| NC_000007.12:g.117094267C>T | NCBI36 |
| NG_016465.4:g.206194C>T , LRG_663:g.206194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*521C>T | ENSP00000497673.2:n.*521C>T | |
| ENST00000647978.2:c.*4026C>T | ENSP00000497658.1:n.*4026C>T | |
| ENST00000649781.2:c.4129C>T | ENSP00000497203.1:p.Arg1377Trp | |
| ENST00000685018.2:c.*525C>T | ENSP00000510194.2:n.*525C>T | |
| ENST00000687278.2:c.*896-625C>T | ENSP00000509593.2:n.*896-625C>T | |
| ENST00000699585.1:c.*781C>T | ENSP00000514456.1:n.*781C>T | |
| ENST00000699598.1:c.*18C>T | ENSP00000514467.1:n.*18C>T | |
| ENST00000699599.1:c.*525C>T | ENSP00000514468.1:n.*525C>T | |
| ENST00000699600.1:c.*904-625C>T | ENSP00000514469.1:n.*904-625C>T | |
| ENST00000699601.1:c.*2687C>T | ENSP00000514470.1:n.*2687C>T | |
| ENST00000699602.1:c.4306C>T | ENSP00000514471.1:p.Arg1436Trp | |
| ENST00000699604.1:c.*4136C>T | ENSP00000514472.1:n.*4136C>T | |
| ENST00000699605.1:c.3886C>T | ENSP00000514473.1:p.Arg1296Trp | |
| ENST00000699606.1:n.3823C>T | ||
| ENST00000685018.1:c.1176C>T | ENSP00000510194.1:n.1176C>T | |
| ENST00000687278.1:c.2030-625C>T | ENSP00000509593.1:n.2030-625C>T | |
| ENST00000689011.1:c.1154C>T | ||
| ENST00000003084.11:c.4312C>T MANE Select | ENSP00000003084.6:p.Arg1438Trp | |
| ENST00000647720.1:c.1762C>T | ||
| ENST00000649781.1:c.4129C>T | ENSP00000497203.1:p.Arg1377Trp | |
| ENST00000003084.10:c.4312C>T | ENSP00000003084.6:p.Arg1438Trp | |
| ENST00000426809.5:c.4222C>T | ENSP00000389119.1:p.Arg1408Trp | |
| ENST00000600166.1:c.368+1413C>T | ||
| NM_000492.3:c.4312C>T , LRG_663t1:c.4312C>T | NP_000483.3:p.Arg1438Trp | |
| XM_011515751.1:c.4402C>T | XP_011514053.1:p.Arg1468Trp | |
| XM_011515753.1:c.4069C>T | XP_011514055.1:p.Arg1357Trp | |
| XM_011515754.1:c.4069C>T | XP_011514056.1:p.Arg1357Trp | |
| NM_000492.4:c.4312C>T MANE Select | NP_000483.3:p.Arg1438Trp |