Linked Data
ClinVar Variation Id:
16801
dbSNP Id:
rs201230446
ExAC:
16:72048540 C / T
gnomAD v2:
16-72048540-C-T
gnomAD v3:
16-72014641-C-T
gnomAD v4:
16-72014641-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72014641C>T , CM000678.2:g.72014641C>T | GRCh38 |
| NC_000016.9:g.72048540C>T , CM000678.1:g.72048540C>T | GRCh37 |
| NC_000016.8:g.70606041C>T | NCBI36 |
| NG_016271.1:g.10898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.403C>T MANE Select | ENSP00000219240.4:p.Arg135Cys | |
| ENST00000219240.8:c.403C>T | ENSP00000219240.4:p.Arg135Cys | |
| ENST00000571288.6:c.577C>T | ||
| ENST00000572003.5:n.223C>T | ||
| ENST00000572887.5:c.403C>T | ENSP00000461848.1:p.Arg135Cys | |
| ENST00000573843.1:n.191C>T | ||
| ENST00000573922.5:n.199C>T | ||
| ENST00000574309.5:c.399C>T | ||
| ENST00000576145.1:c.319C>T | ENSP00000464333.1:p.Arg107Cys | |
| NM_001361.4:c.403C>T | NP_001352.2:p.Arg135Cys | |
| XM_005255827.2:c.319C>T | XP_005255884.1:p.Arg107Cys | |
| XM_005255827.4:c.319C>T | XP_005255884.1:p.Arg107Cys | |
| XM_005255829.4:c.-202C>T | XP_005255886.1:n.-202C>T | |
| XM_017022990.2:c.76C>T | XP_016878479.1:p.Arg26Cys | |
| NM_001361.5:c.403C>T MANE Select | NP_001352.2:p.Arg135Cys |