Linked Data
ClinVar Variation Id:
356492
dbSNP Id:
rs372084864
ExAC:
6:35782416 C / T
gnomAD v2:
6-35782416-C-T
gnomAD v3:
6-35814639-C-T
gnomAD v4:
6-35814639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814639C>T , CM000668.2:g.35814639C>T | GRCh38 |
| NC_000006.11:g.35782416C>T , CM000668.1:g.35782416C>T | GRCh37 |
| NC_000006.10:g.35890394C>T | NCBI36 |
| NG_012184.1:g.14346C>T | |
| NG_012184.2:g.14346C>T | |
| NG_012184.3:g.22434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.506C>T MANE Select | ENSP00000353346.1:p.Thr169Met | |
| ENST00000496656.2:n.285C>T | ||
| ENST00000651132.1:c.506C>T | ENSP00000498322.1:p.Thr169Met | |
| ENST00000651676.1:c.506C>T | ENSP00000498699.1:p.Thr169Met | |
| ENST00000651994.1:c.*70-4798C>T | ENSP00000498310.1:n.*70-4798C>T | |
| ENST00000652718.1:c.338C>T | ENSP00000498866.1:p.Thr113Met | |
| ENST00000360215.2:c.506C>T | ENSP00000353346.1:p.Thr169Met | |
| ENST00000496656.1:n.285C>T | ||
| NM_182548.3:c.506C>T | NP_872354.1:p.Thr169Met | |
| XM_011514403.1:c.506C>T | XP_011512705.1:p.Thr169Met | |
| NM_182548.4:c.506C>T MANE Select | NP_872354.1:p.Thr169Met |