Linked Data
ClinVar Variation Id:
1747541
ClinVar RCV Id:
RCV002349593
MyVariant Identifiers:
chr2:g.47604204C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377065C>T , CM000664.2:g.47377065C>T | GRCh38 |
| NC_000002.11:g.47604204C>T , CM000664.1:g.47604204C>T | GRCh37 |
| NC_000002.10:g.47457708C>T | NCBI36 |
| NG_012352.2:g.36903C>T , LRG_215:g.36903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.543C>T MANE Select | ENSP00000263735.4:p.Ile181= | |
| ENST00000263735.8:c.543C>T | ENSP00000263735.4:p.Ile181= | |
| ENST00000405271.5:c.627C>T | ENSP00000385476.1:p.Ile209= | |
| ENST00000456133.5:c.627C>T | ENSP00000410675.1:p.Ile209= | |
| ENST00000490733.1:n.392C>T | ||
| NM_002354.2:c.543C>T , LRG_215t1:c.543C>T | NP_002345.2:p.Ile181= | |
| NM_002354.3:c.543C>T MANE Select | NP_002345.2:p.Ile181= |