Linked Data
ClinVar Variation Id:
224729
dbSNP Id:
rs771466122
ExAC:
1:154965222 C / T
gnomAD v2:
1-154965222-C-T
gnomAD v3:
1-154992746-C-T
gnomAD v4:
1-154992746-C-T
COSMIC:
COSM896707
PubMed:
PMID:27259049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154992746C>T , CM000663.2:g.154992746C>T | GRCh38 |
| NC_000001.10:g.154965222C>T , CM000663.1:g.154965222C>T | GRCh37 |
| NC_000001.9:g.153231846C>T | NCBI36 |
| NG_042310.1:g.14453C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.1588C>T MANE Select | ENSP00000292180.3:p.Arg530Cys | |
| ENST00000292180.7:c.1588C>T | ENSP00000292180.3:p.Arg530Cys | |
| ENST00000295530.6:c.*11+73C>T | ENSP00000295530.2:n.*11+73C>T | |
| ENST00000315144.14:c.1297C>T | ENSP00000317296.10:p.Arg433Cys | |
| ENST00000368428.1:c.211C>T | ENSP00000357413.1:p.Arg71Cys | |
| ENST00000368432.5:c.1297C>T | ENSP00000357417.1:p.Arg433Cys | |
| ENST00000477609.5:n.344+73C>T | ||
| ENST00000481758.1:n.158C>T | ||
| ENST00000489992.5:n.398C>T | ||
| NM_001184891.1:c.1297C>T | NP_001171820.1:p.Arg433Cys | |
| NM_025207.4:c.1588C>T | NP_079483.3:p.Arg530Cys | |
| NM_201398.2:c.1297C>T | NP_958800.1:p.Arg433Cys | |
| XM_005245503.2:c.787C>T | XP_005245560.1:p.Arg263Cys | |
| XR_241098.3:n.1358C>T | ||
| NM_025207.5:c.1588C>T MANE Select | NP_079483.3:p.Arg530Cys | |
| NM_001184891.2:c.1297C>T | NP_001171820.1:p.Arg433Cys | |
| NM_201398.3:c.1297C>T | NP_958800.1:p.Arg433Cys |