Linked Data
ClinVar Variation Id:
1500742
ClinVar RCV Id:
RCV002015883
dbSNP Id:
rs200892145
gnomAD v2:
11-4104524-C-T
gnomAD v3:
11-4083294-C-T
gnomAD v4:
11-4083294-C-T
COSMIC:
COSM4032726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4083294C>T , CM000673.2:g.4083294C>T | GRCh38 |
| NC_000011.9:g.4104524C>T , CM000673.1:g.4104524C>T | GRCh37 |
| NC_000011.8:g.4061100C>T | NCBI36 |
| NG_016277.1:g.232592C>T , LRG_164:g.232592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1048C>T | ENSP00000432210.2:p.Arg350Trp | |
| ENST00000533343.2:n.1869C>T | ||
| ENST00000698909.1:n.2127C>T | ||
| ENST00000698910.1:c.781C>T | ENSP00000514024.1:p.Arg261Trp | |
| ENST00000698911.1:c.1048C>T | ENSP00000514025.1:p.Arg350Trp | |
| ENST00000698912.1:c.1048C>T | ENSP00000514026.1:p.Arg350Trp | |
| ENST00000698913.1:c.1048C>T | ENSP00000514027.1:p.Arg350Trp | |
| ENST00000698915.1:c.1270C>T | ENSP00000514029.1:p.Arg424Trp | |
| ENST00000698916.1:c.1291C>T | ENSP00000514030.1:p.Arg431Trp | |
| ENST00000698918.1:c.*971C>T | ENSP00000514031.1:n.*971C>T | |
| ENST00000698919.1:c.*203C>T | ENSP00000514032.1:n.*203C>T | |
| ENST00000698920.1:n.570C>T | ||
| ENST00000526596.2:c.1270C>T MANE Select | ENSP00000433266.2:p.Arg424Trp | |
| ENST00000300737.8:c.1270C>T | ENSP00000300737.4:p.Arg424Trp | |
| ENST00000526596.1:c.462C>T | ||
| ENST00000527651.5:c.1270C>T | ENSP00000436208.1:p.Arg424Trp | |
| ENST00000531332.1:n.138C>T | ||
| ENST00000533343.1:n.280C>T | ||
| ENST00000533977.5:c.751C>T | ENSP00000434767.1:p.Arg251Trp | |
| ENST00000616714.4:c.1270C>T | ENSP00000478059.1:p.Arg424Trp | |
| NM_001277961.1:c.1270C>T | NP_001264890.1:p.Arg424Trp | |
| NM_001277962.1:c.1270C>T | NP_001264891.1:p.Arg424Trp | |
| NM_003156.3:c.1270C>T , LRG_164t1:c.1270C>T | NP_003147.2:p.Arg424Trp | |
| NM_001277962.2:c.1270C>T | NP_001264891.1:p.Arg424Trp | |
| NM_001277961.3:c.1270C>T | NP_001264890.1:p.Arg424Trp | |
| NM_001382566.1:c.1048C>T | NP_001369495.1:p.Arg350Trp | |
| NM_001382567.1:c.1270C>T MANE Select | NP_001369496.1:p.Arg424Trp | |
| NM_001382568.1:c.1291C>T | NP_001369497.1:p.Arg431Trp | |
| NM_001382569.1:c.1135C>T | NP_001369498.1:p.Arg379Trp | |
| NM_001382570.1:c.1042C>T | NP_001369499.1:p.Arg348Trp | |
| NM_001382571.1:c.790C>T | NP_001369500.1:p.Arg264Trp | |
| NM_001382573.1:c.1048C>T | NP_001369502.1:p.Arg350Trp | |
| NM_001382575.1:c.1048C>T | NP_001369504.1:p.Arg350Trp | |
| NM_001382576.1:c.1048C>T | NP_001369505.1:p.Arg350Trp | |
| NM_001382577.1:c.1048C>T | NP_001369506.1:p.Arg350Trp | |
| NM_001382578.1:c.1048C>T | NP_001369507.1:p.Arg350Trp | |
| NM_001382579.1:c.1048C>T | NP_001369508.1:p.Arg350Trp | |
| NM_001382580.1:c.781C>T | NP_001369509.1:p.Arg261Trp | |
| NM_001382581.1:c.781C>T | NP_001369510.1:p.Arg261Trp | |
| NM_003156.4:c.1270C>T | NP_003147.2:p.Arg424Trp | |
| NR_168436.1:n.1399-3183C>T | ||
| NR_168437.1:n.1699C>T | ||
| NR_168438.1:n.1521C>T |