Linked Data
ClinVar Variation Id:
1494
ClinVar RCV Id:
RCV000001559
dbSNP Id:
rs118204030
ExAC:
22:38121765 C / T
gnomAD v2:
22-38121765-C-T
gnomAD v3:
22-37725758-C-T
gnomAD v4:
22-37725758-C-T
PubMed:
PMID:16385457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37725758C>T , CM000684.2:g.37725758C>T | GRCh38 |
| NC_000022.10:g.38121765C>T , CM000684.1:g.38121765C>T | GRCh37 |
| NC_000022.9:g.36451711C>T | NCBI36 |
| NG_012857.1:g.33771C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644935.1:c.3202C>T MANE Select | ENSP00000496394.1:p.Arg1068Ter | |
| ENST00000344404.10:c.*2685C>T | ENSP00000340312.6:n.*2685C>T | |
| ENST00000406386.7:c.3202C>T | ENSP00000384312.3:p.Arg1068Ter | |
| ENST00000455236.4:c.4159C>T | ENSP00000477208.1:n.4159C>T | |
| ENST00000492485.5:n.3136C>T | ||
| NM_001039141.2:c.3202C>T | NP_001034230.1:p.Arg1068Ter | |
| NM_001039141.3:c.3202C>T MANE Select | NP_001034230.1:p.Arg1068Ter |