Linked Data
ClinVar Variation Id:
16808
ClinVar RCV Id:
RCV000018299
dbSNP Id:
rs267606769
ExAC:
16:72055100 C / T
gnomAD v2:
16-72055100-C-T
gnomAD v3:
16-72021201-C-T
gnomAD v4:
16-72021201-C-T
COSMIC:
COSM1379667
PubMed:
PMID:19915526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72021201C>T , CM000678.2:g.72021201C>T | GRCh38 |
| NC_000016.9:g.72055100C>T , CM000678.1:g.72055100C>T | GRCh37 |
| NC_000016.8:g.70612601C>T | NCBI36 |
| NG_016271.1:g.17458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.595C>T MANE Select | ENSP00000219240.4:p.Arg199Cys | |
| ENST00000219240.8:c.595C>T | ENSP00000219240.4:p.Arg199Cys | |
| ENST00000571392.1:n.1485-1964C>T | ||
| ENST00000572003.5:n.512C>T | ||
| ENST00000572887.5:c.595C>T | ENSP00000461848.1:p.Arg199Cys | |
| ENST00000573922.5:n.314-1964C>T | ||
| ENST00000574309.5:c.514-2944C>T | ||
| NM_001361.4:c.595C>T | NP_001352.2:p.Arg199Cys | |
| XM_005255827.2:c.511C>T | XP_005255884.1:p.Arg171Cys | |
| XM_005255828.3:c.187C>T | XP_005255885.1:p.Arg63Cys | |
| XM_005255829.2:c.166C>T | XP_005255886.1:p.Arg56Cys | |
| XM_005255827.4:c.511C>T | XP_005255884.1:p.Arg171Cys | |
| XM_005255829.4:c.166C>T | XP_005255886.1:p.Arg56Cys | |
| XM_017022990.2:c.268C>T | XP_016878479.1:p.Arg90Cys | |
| NM_001361.5:c.595C>T MANE Select | NP_001352.2:p.Arg199Cys |