Linked Data
ClinVar Variation Id:
16898
dbSNP Id:
rs56337013
ExAC:
10:96612495 C / T
gnomAD v2:
10-96612495-C-T
gnomAD v3:
10-94852738-C-T
gnomAD v4:
10-94852738-C-T
COSMIC:
COSM294286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852738C>T , CM000672.2:g.94852738C>T | GRCh38 |
| NC_000010.10:g.96612495C>T , CM000672.1:g.96612495C>T | GRCh37 |
| NC_000010.9:g.96602485C>T | NCBI36 |
| NG_008384.2:g.95033C>T | |
| NG_008384.3:g.95058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1297C>T MANE Select | ENSP00000360372.3:p.Arg433Trp | |
| ENST00000645461.1:n.2208C>T | ||
| ENST00000371321.7:c.1297C>T | ENSP00000360372.3:p.Arg433Trp | |
| ENST00000464755.1:c.2060C>T | ENSP00000483243.1:n.2060C>T | |
| NM_000769.2:c.1297C>T | NP_000760.1:p.Arg433Trp | |
| NM_000769.4:c.1297C>T MANE Select | NP_000760.1:p.Arg433Trp |