Linked Data
ClinVar Variation Id:
384792
ClinVar RCV Id:
RCV000427733
dbSNP Id:
rs1057522053
gnomAD v4:
21-45987501-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987501C>A , CM000683.2:g.45987501C>A | GRCh38 |
| NC_000021.8:g.47407415C>A , CM000683.1:g.47407415C>A | GRCh37 |
| NC_000021.7:g.46231843C>A | NCBI36 |
| NG_008674.1:g.10753C>A , LRG_475:g.10753C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361866.8:c.741C>A MANE Select | ENSP00000355180.3:p.Cys247Ter | |
| ENST00000361866.7:c.741C>A | ENSP00000355180.3:p.Cys247Ter | |
| ENST00000492851.1:n.393C>A | ||
| ENST00000612273.1:c.741C>A | ENSP00000483630.1:p.Cys247Ter | |
| NM_001848.2:c.741C>A , LRG_475t1:c.741C>A | NP_001839.2:p.Cys247Ter | |
| NM_001848.3:c.741C>A MANE Select | NP_001839.2:p.Cys247Ter |