Linked Data
ClinVar Variation Id:
45615
dbSNP Id:
rs397517244
gnomAD v2:
10-75832550-C-T
gnomAD v3:
10-74072792-C-T
gnomAD v4:
10-74072792-C-T
COSMIC:
COSM4015856
PubMed:
PMID:16949038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74072792C>T , CM000672.2:g.74072792C>T | GRCh38 |
| NC_000010.10:g.75832550C>T , CM000672.1:g.75832550C>T | GRCh37 |
| NC_000010.9:g.75502556C>T | NCBI36 |
| NG_008868.1:g.79679C>T , LRG_383:g.79679C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000211998.10:c.562C>T MANE Select | ENSP00000211998.5:p.Arg188Ter | |
| ENST00000211998.8:c.562C>T | ENSP00000211998.4:p.Arg188Ter | |
| ENST00000372755.7:c.562C>T | ENSP00000361841.3:p.Arg188Ter | |
| ENST00000478896.2:n.332-28262C>T | ||
| ENST00000623461.3:n.520C>T | ||
| ENST00000624354.3:c.*317C>T | ENSP00000485551.1:n.*317C>T | |
| NM_003373.3:c.562C>T | NP_003364.1:p.Arg188Ter | |
| NM_014000.2:c.562C>T , LRG_383t1:c.562C>T | NP_054706.1:p.Arg188Ter | |
| XM_005270142.1:c.562C>T | XP_005270199.1:p.Arg188Ter | |
| XM_005270143.1:c.562C>T | XP_005270200.1:p.Arg188Ter | |
| NM_003373.4:c.562C>T | NP_003364.1:p.Arg188Ter | |
| NM_014000.3:c.562C>T MANE Select | NP_054706.1:p.Arg188Ter |