Linked Data
ClinVar Variation Id:
196948
dbSNP Id:
rs147882179
ExAC:
21:47423661 C / T
gnomAD v2:
21-47423661-C-T
gnomAD v3:
21-46003747-C-T
gnomAD v4:
21-46003747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003747C>T , CM000683.2:g.46003747C>T | GRCh38 |
| NC_000021.8:g.47423661C>T , CM000683.1:g.47423661C>T | GRCh37 |
| NC_000021.7:g.46248089C>T | NCBI36 |
| NG_008674.1:g.26999C>T , LRG_475:g.26999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.1220C>T | ||
| ENST00000612273.2:c.947C>T | ||
| ENST00000682634.1:c.947C>T | ||
| ENST00000361866.8:c.2821C>T MANE Select | ENSP00000355180.3:p.Leu941Phe | |
| ENST00000361866.7:c.2821C>T | ENSP00000355180.3:p.Leu941Phe | |
| ENST00000486023.1:n.609C>T | ||
| ENST00000498614.5:n.1055C>T | ||
| ENST00000612273.1:c.2815C>T | ENSP00000483630.1:p.Leu939Phe | |
| NM_001848.2:c.2821C>T , LRG_475t1:c.2821C>T | NP_001839.2:p.Leu941Phe | |
| NM_001848.3:c.2821C>T MANE Select | NP_001839.2:p.Leu941Phe |