Linked Data
ClinVar Variation Id:
258857
dbSNP Id:
rs3138142
ExAC:
12:56115585 C / T
gnomAD v2:
12-56115585-C-T
gnomAD v3:
12-55721801-C-T
gnomAD v4:
12-55721801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721801C>T , CM000674.2:g.55721801C>T | GRCh38 |
| NC_000012.11:g.56115585C>T , CM000674.1:g.56115585C>T | GRCh37 |
| NC_000012.10:g.54401852C>T | NCBI36 |
| NG_008606.1:g.6435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.423C>T MANE Select | ENSP00000257895.6:p.Ile141= | |
| ENST00000257895.9:c.423C>T | ENSP00000257895.5:p.Ile141= | |
| ENST00000257899.3:c.438C>T | ||
| ENST00000547072.5:c.132C>T | ENSP00000449927.1:p.Ile44= | |
| ENST00000547301.1:n.531C>T | ||
| ENST00000548082.1:c.423C>T | ENSP00000447128.1:p.Ile141= | |
| ENST00000548123.1:c.300+307C>T | ||
| ENST00000548486.1:n.433C>T | ||
| ENST00000550412.5:c.*95C>T | ENSP00000447650.1:n.*95C>T | |
| ENST00000550608.1:n.562C>T | ||
| ENST00000551946.5:c.*226C>T | ENSP00000450201.1:n.*226C>T | |
| ENST00000552930.5:c.132C>T | ENSP00000448014.1:p.Ile44= | |
| ENST00000553160.1:n.406-394C>T | ||
| ENST00000553187.5:n.433C>T | ||
| NM_001199771.1:c.423C>T | NP_001186700.1:p.Ile141= | |
| NM_002905.3:c.423C>T | NP_002896.2:p.Ile141= | |
| NR_037658.1:n.482C>T | ||
| NM_001199771.2:c.423C>T | NP_001186700.1:p.Ile141= | |
| NM_002905.5:c.423C>T MANE Select | NP_002896.2:p.Ile141= | |
| NM_001199771.3:c.423C>T | NP_001186700.1:p.Ile141= |