Linked Data
ClinVar Variation Id:
8010
dbSNP Id:
rs104894374
ExAC:
12:56115631 C / T
gnomAD v2:
12-56115631-C-T
gnomAD v3:
12-55721847-C-T
gnomAD v4:
12-55721847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721847C>T , CM000674.2:g.55721847C>T | GRCh38 |
| NC_000012.11:g.56115631C>T , CM000674.1:g.56115631C>T | GRCh37 |
| NC_000012.10:g.54401898C>T | NCBI36 |
| NG_008606.1:g.6481C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257895.10:c.469C>T MANE Select | ENSP00000257895.6:p.Arg157Trp | |
| ENST00000257895.9:c.469C>T | ENSP00000257895.5:p.Arg157Trp | |
| ENST00000257899.3:c.484C>T | ||
| ENST00000547072.5:c.178C>T | ENSP00000449927.1:p.Arg60Trp | |
| ENST00000548082.1:c.469C>T | ENSP00000447128.1:p.Arg157Trp | |
| ENST00000548123.1:c.300+353C>T | ||
| ENST00000548486.1:n.479C>T | ||
| ENST00000550412.5:c.*141C>T | ENSP00000447650.1:n.*141C>T | |
| ENST00000550608.1:n.608C>T | ||
| ENST00000551946.5:c.*272C>T | ENSP00000450201.1:n.*272C>T | |
| ENST00000553160.1:n.406-348C>T | ||
| ENST00000553187.5:n.479C>T | ||
| NM_001199771.1:c.469C>T | NP_001186700.1:p.Arg157Trp | |
| NM_002905.3:c.469C>T | NP_002896.2:p.Arg157Trp | |
| NR_037658.1:n.528C>T | ||
| NM_001199771.2:c.469C>T | NP_001186700.1:p.Arg157Trp | |
| NM_002905.5:c.469C>T MANE Select | NP_002896.2:p.Arg157Trp | |
| NM_001199771.3:c.469C>T | NP_001186700.1:p.Arg157Trp |