Linked Data
ClinVar Variation Id:
1113757
ClinVar RCV Id:
RCV001441232
dbSNP Id:
rs753486364
ExAC:
21:47421183 C / T
gnomAD v2:
21-47421183-C-T
gnomAD v3:
21-46001269-C-T
gnomAD v4:
21-46001269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001269C>T , CM000683.2:g.46001269C>T | GRCh38 |
| NC_000021.8:g.47421183C>T , CM000683.1:g.47421183C>T | GRCh37 |
| NC_000021.7:g.46245611C>T | NCBI36 |
| NG_008674.1:g.24521C>T , LRG_475:g.24521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.238C>T | ||
| ENST00000361866.8:c.1839C>T MANE Select | ENSP00000355180.3:p.Pro613= | |
| ENST00000361866.7:c.1839C>T | ENSP00000355180.3:p.Pro613= | |
| ENST00000463060.5:n.238C>T | ||
| ENST00000498614.5:n.73C>T | ||
| ENST00000612273.1:c.1833C>T | ENSP00000483630.1:p.Pro611= | |
| NM_001848.2:c.1839C>T , LRG_475t1:c.1839C>T | NP_001839.2:p.Pro613= | |
| NM_001848.3:c.1839C>T MANE Select | NP_001839.2:p.Pro613= |