Linked Data
ClinVar Variation Id:
318995
dbSNP Id:
rs140875749
ExAC:
16:31202973 C / T
gnomAD v2:
16-31202973-C-T
gnomAD v3:
16-31191652-C-T
gnomAD v4:
16-31191652-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191652C>T , CM000678.2:g.31191652C>T | GRCh38 |
| NC_000016.9:g.31202973C>T , CM000678.1:g.31202973C>T | GRCh37 |
| NC_000016.8:g.31110474C>T | NCBI36 |
| NG_012889.2:g.16521C>T , LRG_655:g.16521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.11:c.*214C>T | ENSP00000254108.7:n.*214C>T | |
| NM_001170634.1:c.*214C>T | NP_001164105.1:n.*214C>T | |
| NM_001170937.1:c.*214C>T | NP_001164408.1:n.*214C>T | |
| NM_004960.3:c.*214C>T , LRG_655t1:c.*214C>T | NP_004951.1:n.*214C>T | |
| NR_028388.2:n.1865C>T |