Linked Data
ClinVar Variation Id:
806379
dbSNP Id:
rs200705175
ExAC:
1:230814698 C / T
gnomAD v2:
1-230814698-C-T
gnomAD v3:
1-230678952-C-T
gnomAD v4:
1-230678952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230678952C>T , CM000663.2:g.230678952C>T | GRCh38 |
| NC_000001.10:g.230814698C>T , CM000663.1:g.230814698C>T | GRCh37 |
| NC_000001.9:g.228881321C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1066C>T MANE Select | ENSP00000355629.4:p.Arg356Trp | |
| ENST00000366668.7:c.1066C>T | ENSP00000355628.3:p.Arg356Trp | |
| ENST00000366669.8:c.1066C>T | ENSP00000355629.4:p.Arg356Trp | |
| ENST00000468893.6:c.*924C>T | ENSP00000476305.1:n.*924C>T | |
| ENST00000494371.5:n.3360C>T | ||
| ENST00000534989.1:c.889C>T | ENSP00000440349.1:p.Arg297Trp | |
| NM_001145036.1:c.1066C>T | NP_001138508.1:p.Arg356Trp | |
| NM_007357.2:c.1066C>T | NP_031383.1:p.Arg356Trp | |
| NM_007357.3:c.1066C>T MANE Select | NP_031383.1:p.Arg356Trp | |
| NM_001145036.2:c.1066C>T | NP_001138508.1:p.Arg356Trp |