Linked Data
ClinVar Variation Id:
579131
ClinVar RCV Id:
RCV000702340
dbSNP Id:
rs368819172
ExAC:
2:233398719 C / T
gnomAD v2:
2-233398719-C-T
gnomAD v4:
2-232534009-C-T
COSMIC:
COSM3049355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534009C>T , CM000664.2:g.232534009C>T | GRCh38 |
| NC_000002.11:g.233398719C>T , CM000664.1:g.233398719C>T | GRCh37 |
| NC_000002.10:g.233106963C>T | NCBI36 |
| NG_008028.1:g.12798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1126C>T MANE Select | ENSP00000258385.3:p.Arg376Trp | |
| ENST00000258385.7:c.1126C>T | ENSP00000258385.3:p.Arg376Trp | |
| ENST00000441621.6:c.*308C>T | ENSP00000408819.2:n.*308C>T | |
| ENST00000446616.1:c.*767C>T | ENSP00000410801.1:n.*767C>T | |
| ENST00000543200.5:c.1081C>T | ENSP00000438380.1:p.Arg361Trp | |
| NM_000751.2:c.1126C>T | NP_000742.1:p.Arg376Trp | |
| NM_001256657.1:c.1081C>T | NP_001243586.1:p.Arg361Trp | |
| NM_001311195.1:c.544C>T | NP_001298124.1:p.Arg182Trp | |
| NM_001311196.1:c.823C>T | NP_001298125.1:p.Arg275Trp | |
| NR_046333.1:c.-4294966425C>T | ||
| NR_046334.1:c.-4294966146C>T | ||
| XM_011510524.1:c.745C>T | XP_011508826.1:p.Arg249Trp | |
| XM_011510524.2:c.745C>T | XP_011508826.1:p.Arg249Trp | |
| NM_000751.3:c.1126C>T MANE Select | NP_000742.1:p.Arg376Trp | |
| NM_001311195.2:c.544C>T | NP_001298124.1:p.Arg182Trp | |
| NM_001311196.2:c.823C>T | NP_001298125.1:p.Arg275Trp | |
| NM_001256657.2:c.1081C>T | NP_001243586.1:p.Arg361Trp |