Linked Data
ClinVar Variation Id:
1484788
ClinVar RCV Id:
RCV002030243
dbSNP Id:
rs767861682
ExAC:
11:66033397 C / T
gnomAD v2:
11-66033397-C-T
gnomAD v3:
11-66265926-C-T
gnomAD v4:
11-66265926-C-T
COSMIC:
COSM1298444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66265926C>T , CM000673.2:g.66265926C>T | GRCh38 |
| NC_000011.9:g.66033397C>T , CM000673.1:g.66033397C>T | GRCh37 |
| NC_000011.8:g.65789973C>T | NCBI36 |
| NG_046774.1:g.13633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394067.7:c.1516C>T MANE Select | ENSP00000377631.2:p.Arg506Cys | |
| ENST00000316924.9:c.1516C>T | ENSP00000314837.5:p.Arg506Cys | |
| ENST00000394065.2:c.1099C>T | ENSP00000377629.2:p.Arg367Cys | |
| ENST00000394066.6:c.1285C>T | ENSP00000377630.2:p.Arg429Cys | |
| ENST00000394067.6:c.1516C>T | ENSP00000377631.2:p.Arg506Cys | |
| ENST00000394078.5:c.753-1263C>T | ENSP00000377641.1:n.753-1263C>T | |
| ENST00000417856.5:c.1516C>T | ENSP00000399403.1:p.Arg506Cys | |
| ENST00000421552.5:c.1285C>T | ENSP00000408484.1:p.Arg429Cys | |
| NM_001134774.1:c.1285C>T | NP_001128246.1:p.Arg429Cys | |
| NM_001134775.1:c.1516C>T | NP_001128247.1:p.Arg506Cys | |
| NM_001134776.1:c.1516C>T | NP_001128248.1:p.Arg506Cys | |
| NM_022822.2:c.1516C>T | NP_073733.1:p.Arg506Cys | |
| XM_005274182.1:c.1516C>T | XP_005274239.1:p.Arg506Cys | |
| XM_005274183.1:c.1516C>T | XP_005274240.1:p.Arg506Cys | |
| XM_005274184.1:c.1516C>T | XP_005274241.1:p.Arg506Cys | |
| XM_006718665.1:c.1516C>T | XP_006718728.1:p.Arg506Cys | |
| NM_001318734.1:c.1516C>T | NP_001305663.1:p.Arg506Cys | |
| XM_017018133.1:c.925C>T | XP_016873622.1:p.Arg309Cys | |
| XM_024448657.1:c.1516C>T | XP_024304425.1:p.Arg506Cys | |
| NM_001134776.2:c.1516C>T | NP_001128248.1:p.Arg506Cys | |
| NM_001318734.2:c.1516C>T MANE Select | NP_001305663.1:p.Arg506Cys | |
| NM_022822.3:c.1516C>T | NP_073733.1:p.Arg506Cys | |
| NM_001134774.2:c.1285C>T | NP_001128246.1:p.Arg429Cys | |
| NM_001134775.2:c.1516C>T | NP_001128247.1:p.Arg506Cys |