Linked Data
ClinVar Variation Id:
388036
dbSNP Id:
rs745847824
ExAC:
21:47420250 C / T
gnomAD v2:
21-47420250-C-T
gnomAD v3:
21-46000336-C-T
gnomAD v4:
21-46000336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46000336C>T , CM000683.2:g.46000336C>T | GRCh38 |
| NC_000021.8:g.47420250C>T , CM000683.1:g.47420250C>T | GRCh37 |
| NC_000021.7:g.46244678C>T | NCBI36 |
| NG_008674.1:g.23588C>T , LRG_475:g.23588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1782C>T MANE Select | ENSP00000355180.3:p.Cys594= | |
| ENST00000361866.7:c.1782C>T | ENSP00000355180.3:p.Cys594= | |
| ENST00000466285.1:n.299C>T | ||
| ENST00000612273.1:c.1782C>T | ENSP00000483630.1:p.Cys594= | |
| NM_001848.2:c.1782C>T , LRG_475t1:c.1782C>T | NP_001839.2:p.Cys594= | |
| NM_001848.3:c.1782C>T MANE Select | NP_001839.2:p.Cys594= |