Linked Data
ClinVar Variation Id:
4175
ClinVar RCV Id:
RCV000004392
dbSNP Id:
rs119473037
ExAC:
2:217315650 C / T
gnomAD v2:
2-217315650-C-T
gnomAD v3:
2-216450927-C-T
gnomAD v4:
2-216450927-C-T
COSMIC:
COSM3838556
PubMed:
PMID:11799392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216450927C>T , CM000664.2:g.216450927C>T | GRCh38 |
| NC_000002.11:g.217315650C>T , CM000664.1:g.217315650C>T | GRCh37 |
| NC_000002.10:g.217023895C>T | NCBI36 |
| NG_009771.1:g.43514C>T , LRG_108:g.43514C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.1933C>T | ENSP00000394410.2:p.Arg645Cys | |
| ENST00000430374.6:c.1933C>T | ENSP00000405077.2:p.Arg645Cys | |
| ENST00000444508.6:c.1933C>T | ENSP00000398969.2:p.Arg645Cys | |
| ENST00000486983.2:n.464C>T | ||
| ENST00000697898.1:n.2294C>T | ||
| ENST00000697899.1:c.1699C>T | ENSP00000513470.1:p.Arg567Cys | |
| ENST00000697901.1:c.*791C>T | ENSP00000513471.1:n.*791C>T | |
| ENST00000697902.1:n.2165C>T | ||
| ENST00000697903.1:c.*420C>T | ENSP00000513472.1:n.*420C>T | |
| ENST00000697904.1:c.*420C>T | ENSP00000513473.1:n.*420C>T | |
| ENST00000697905.1:c.*420C>T | ENSP00000513474.1:n.*420C>T | |
| ENST00000697906.1:c.1699C>T | ENSP00000513475.1:p.Arg567Cys | |
| ENST00000697907.1:c.*791C>T | ENSP00000513476.1:n.*791C>T | |
| ENST00000697908.1:n.1730C>T | ||
| ENST00000697909.1:n.825C>T | ||
| ENST00000357276.9:c.1933C>T MANE Select | ENSP00000349823.4:p.Arg645Cys | |
| ENST00000357276.8:c.1933C>T | ENSP00000349823.4:p.Arg645Cys | |
| ENST00000358207.9:c.1933C>T | ENSP00000350940.5:p.Arg645Cys | |
| ENST00000392128.6:c.1459C>T | ENSP00000375974.2:p.Arg487Cys | |
| ENST00000486983.1:n.119C>T | ||
| NM_001127207.1:c.1933C>T | NP_001120679.1:p.Arg645Cys | |
| NM_014140.3:c.1933C>T , LRG_108t1:c.1933C>T | NP_054859.2:p.Arg645Cys | |
| XM_005246631.2:c.1933C>T | XP_005246688.1:p.Arg645Cys | |
| XM_005246632.1:c.1933C>T | XP_005246689.1:p.Arg645Cys | |
| XM_006712557.1:c.1867C>T | XP_006712620.1:p.Arg623Cys | |
| XM_005246632.2:c.1933C>T | XP_005246689.1:p.Arg645Cys | |
| XM_017004228.2:c.1021C>T | XP_016859717.1:p.Arg341Cys | |
| NM_001127207.2:c.1933C>T | NP_001120679.1:p.Arg645Cys | |
| NM_014140.4:c.1933C>T MANE Select | NP_054859.2:p.Arg645Cys |