Linked Data
ClinVar Variation Id:
283999
dbSNP Id:
rs762625409
ExAC:
21:47417373 C / T
gnomAD v2:
21-47417373-C-T
gnomAD v3:
21-45997459-C-T
gnomAD v4:
21-45997459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45997459C>T , CM000683.2:g.45997459C>T | GRCh38 |
| NC_000021.8:g.47417373C>T , CM000683.1:g.47417373C>T | GRCh37 |
| NC_000021.7:g.46241801C>T | NCBI36 |
| NG_008674.1:g.20711C>T , LRG_475:g.20711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.212C>T | ||
| ENST00000361866.8:c.1437C>T MANE Select | ENSP00000355180.3:p.Gly479= | |
| ENST00000361866.7:c.1437C>T | ENSP00000355180.3:p.Gly479= | |
| ENST00000612273.1:c.1437C>T | ENSP00000483630.1:p.Gly479= | |
| NM_001848.2:c.1437C>T , LRG_475t1:c.1437C>T | NP_001839.2:p.Gly479= | |
| NM_001848.3:c.1437C>T MANE Select | NP_001839.2:p.Gly479= |