Linked Data
ClinVar Variation Id:
310018
dbSNP Id:
rs200132571
ExAC:
12:58190148 C / T
gnomAD v2:
12-58190148-C-T
gnomAD v3:
12-57796365-C-T
gnomAD v4:
12-57796365-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57796365C>T , CM000674.2:g.57796365C>T | GRCh38 |
| NC_000012.11:g.58190148C>T , CM000674.1:g.58190148C>T | GRCh37 |
| NC_000012.10:g.56476415C>T | NCBI36 |
| NG_016971.1:g.18621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651066.1:c.*902C>T | ENSP00000499143.1:n.*902C>T | |
| ENST00000651284.1:c.*389C>T | ENSP00000499064.1:n.*389C>T | |
| ENST00000651899.1:c.*301C>T | ENSP00000498993.1:n.*301C>T | |
| ENST00000652027.2:c.760C>T MANE Select | ENSP00000499171.2:p.Arg254Cys | |
| ENST00000323833.12:c.823C>T | ENSP00000313877.8:p.Arg275Cys | |
| ENST00000454289.7:c.760C>T | ENSP00000388330.2:p.Arg254Cys | |
| ENST00000497617.1:n.768C>T | ||
| ENST00000540550.6:c.*168C>T | ENSP00000440987.1:n.*168C>T | |
| ENST00000543727.5:c.571+3292C>T | ENSP00000439342.1:n.571+3292C>T | |
| ENST00000548851.5:c.571+3292C>T | ENSP00000450041.1:n.571+3292C>T | |
| ENST00000550559.5:c.571+3292C>T | ENSP00000448575.1:n.571+3292C>T | |
| NM_001172695.1:c.*168C>T | NP_001166166.1:n.*168C>T | |
| NM_001172696.1:c.823C>T | NP_001166167.1:p.Arg275Cys | |
| NM_001172697.1:c.571+3292C>T | NP_001166168.1:n.571+3292C>T | |
| NM_005726.5:c.760C>T | NP_005717.3:p.Arg254Cys | |
| NM_001172695.2:c.*168C>T | NP_001166166.1:n.*168C>T | |
| NM_001172696.2:c.823C>T | NP_001166167.1:p.Arg275Cys | |
| NM_005726.6:c.760C>T MANE Select | NP_005717.3:p.Arg254Cys | |
| NM_001172697.2:c.571+3292C>T | NP_001166168.1:n.571+3292C>T |