Linked Data
ClinVar Variation Id:
498325
dbSNP Id:
rs777378283
ExAC:
21:47421962 C / T
gnomAD v2:
21-47421962-C-T
gnomAD v3:
21-46002048-C-T
gnomAD v4:
21-46002048-C-T
COSMIC:
COSM2822134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002048C>T , CM000683.2:g.46002048C>T | GRCh38 |
| NC_000021.8:g.47421962C>T , CM000683.1:g.47421962C>T | GRCh37 |
| NC_000021.7:g.46246390C>T | NCBI36 |
| NG_008674.1:g.25300C>T , LRG_475:g.25300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.443C>T | ||
| ENST00000612273.2:c.170C>T | ||
| ENST00000682634.1:c.170C>T | ||
| ENST00000361866.8:c.2044C>T MANE Select | ENSP00000355180.3:p.Arg682Trp | |
| ENST00000361866.7:c.2044C>T | ENSP00000355180.3:p.Arg682Trp | |
| ENST00000463060.5:n.443C>T | ||
| ENST00000498614.5:n.278C>T | ||
| ENST00000612273.1:c.2038C>T | ENSP00000483630.1:p.Arg680Trp | |
| NM_001848.2:c.2044C>T , LRG_475t1:c.2044C>T | NP_001839.2:p.Arg682Trp | |
| NM_001848.3:c.2044C>T MANE Select | NP_001839.2:p.Arg682Trp |