Linked Data
ClinVar Variation Id:
293458
dbSNP Id:
rs200197424
ExAC:
1:168262448 C / T
gnomAD v2:
1-168262448-C-T
gnomAD v3:
1-168293210-C-T
gnomAD v4:
1-168293210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293210C>T , CM000663.2:g.168293210C>T | GRCh38 |
| NC_000001.10:g.168262448C>T , CM000663.1:g.168262448C>T | GRCh37 |
| NC_000001.9:g.166529072C>T | NCBI36 |
| NG_008244.1:g.17171C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.535C>T MANE Select | ENSP00000356795.3:p.Arg179Ter | |
| ENST00000367821.7:c.535C>T | ENSP00000356795.3:p.Arg179Ter | |
| ENST00000431969.5:c.332C>T | ||
| NM_005149.2:c.535C>T | NP_005140.1:p.Arg179Ter | |
| NM_005149.3:c.535C>T MANE Select | NP_005140.1:p.Arg179Ter |