Linked Data
ClinVar Variation Id:
2300403
ClinVar RCV Id:
RCV004152006
dbSNP Id:
rs762674258
ExAC:
1:95712189 C / T
gnomAD v2:
1-95712189-C-T
gnomAD v3:
1-95246633-C-T
gnomAD v4:
1-95246633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.95246633C>T , CM000663.2:g.95246633C>T | GRCh38 |
| NC_000001.10:g.95712189C>T , CM000663.1:g.95712189C>T | GRCh37 |
| NC_000001.9:g.95484777C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370202.5:c.665C>T (RWDD3) MANE Select | ENSP00000359221.4:p.Thr222Ile | |
| ENST00000263893.10:c.*3-123C>T (RWDD3) | ENSP00000263893.6:n.*3-123C>T | |
| ENST00000370202.4:c.665C>T (RWDD3) | ENSP00000359221.4:p.Thr222Ile | |
| ENST00000460571.1:n.576C>T (RWDD3) | ||
| ENST00000473397.1:n.49-123C>T (RWDD3) | ||
| ENST00000495272.5:n.808C>T (RWDD3) | ||
| ENST00000497058.5:n.304C>T (RWDD3) | ||
| ENST00000604203.1:c.211-123C>T (TLCD4-RWDD3) | ||
| NM_001128142.1:c.*3-123C>T (RWDD3) | NP_001121614.1:n.*3-123C>T | |
| NM_001199682.1:c.*15C>T (RWDD3) | NP_001186611.1:n.*15C>T | |
| NM_001278247.1:c.*15C>T (RWDD3) | NP_001265176.1:n.*15C>T | |
| NM_001278248.1:c.620C>T (RWDD3) | NP_001265177.1:p.Thr207Ile | |
| NM_015485.4:c.665C>T (RWDD3) | NP_056300.2:p.Thr222Ile | |
| NR_103483.1:n.758C>T (RWDD3) | ||
| NR_103484.1:n.374C>T (RWDD3) | ||
| NM_015485.5:c.665C>T (RWDD3) MANE Select | NP_056300.3:p.Thr222Ile | |
| NM_001128142.2:c.*3-123C>T (RWDD3) | NP_001121614.2:n.*3-123C>T | |
| NM_001199682.2:c.*15C>T (RWDD3) | NP_001186611.2:n.*15C>T | |
| NM_001278247.2:c.*15C>T (RWDD3) | NP_001265176.2:n.*15C>T | |
| NM_001278248.2:c.620C>T (RWDD3) | NP_001265177.2:p.Thr207Ile | |
| NR_103483.2:n.703C>T (RWDD3) |