Linked Data
ClinVar Variation Id:
498568
dbSNP Id:
rs200770631
ExAC:
21:47421181 C / A
gnomAD v2:
21-47421181-C-A
gnomAD v3:
21-46001267-C-A
gnomAD v4:
21-46001267-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001267C>A , CM000683.2:g.46001267C>A | GRCh38 |
| NC_000021.8:g.47421181C>A , CM000683.1:g.47421181C>A | GRCh37 |
| NC_000021.7:g.46245609C>A | NCBI36 |
| NG_008674.1:g.24519C>A , LRG_475:g.24519C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.236C>A | ||
| ENST00000361866.8:c.1837C>A MANE Select | ENSP00000355180.3:p.Pro613Thr | |
| ENST00000361866.7:c.1837C>A | ENSP00000355180.3:p.Pro613Thr | |
| ENST00000463060.5:n.236C>A | ||
| ENST00000498614.5:n.71C>A | ||
| ENST00000612273.1:c.1831C>A | ENSP00000483630.1:p.Pro611Thr | |
| NM_001848.2:c.1837C>A , LRG_475t1:c.1837C>A | NP_001839.2:p.Pro613Thr | |
| NM_001848.3:c.1837C>A MANE Select | NP_001839.2:p.Pro613Thr |