Linked Data
ClinVar Variation Id:
538870
dbSNP Id:
rs150101415
ExAC:
13:52598272 C / T
gnomAD v2:
13-52598272-C-T
gnomAD v3:
13-52024136-C-T
gnomAD v4:
13-52024136-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52024136C>T , CM000675.2:g.52024136C>T | GRCh38 |
| NC_000013.10:g.52598272C>T , CM000675.1:g.52598272C>T | GRCh37 |
| NC_000013.9:g.51496273C>T | NCBI36 |
| NG_028038.1:g.16750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521508.2:c.406C>T MANE Select | ENSP00000430236.1:p.Arg136Cys | |
| ENST00000649340.2:c.406C>T | ENSP00000497184.2:p.Arg136Cys | |
| ENST00000649651.2:n.4710C>T | ||
| ENST00000649708.2:c.275+4993C>T | ENSP00000497459.2:n.275+4993C>T | |
| ENST00000650049.2:c.276-450C>T | ENSP00000497398.2:n.276-450C>T | |
| ENST00000679359.1:c.*158C>T | ENSP00000505579.1:n.*158C>T | |
| ENST00000679495.1:n.44+11674C>T | ||
| ENST00000679544.1:c.276-4183C>T | ENSP00000505560.1:n.276-4183C>T | |
| ENST00000680058.1:n.309C>T | ||
| ENST00000680793.1:n.2200-4183C>T | ||
| ENST00000680950.1:n.533C>T | ||
| ENST00000681047.1:c.*131C>T | ENSP00000505034.1:n.*131C>T | |
| ENST00000681053.1:c.175C>T | ENSP00000505307.1:p.Arg59Cys | |
| ENST00000681145.1:c.*1-4186C>T | ENSP00000505163.1:n.*1-4186C>T | |
| ENST00000681226.1:n.396-4183C>T | ||
| ENST00000519151.1:n.3342C>T | ||
| ENST00000521508.1:c.406C>T | ENSP00000430236.1:p.Arg136Cys | |
| ENST00000523764.1:c.45-4183C>T | ENSP00000429497.1:n.45-4183C>T | |
| NM_001004127.2:c.406C>T | NP_001004127.2:p.Arg136Cys | |
| NR_036571.2:n.77-4183C>T | ||
| NM_001004127.3:c.406C>T MANE Select | NP_001004127.2:p.Arg136Cys | |
| NR_036571.3:n.66-4183C>T |