Linked Data
ClinVar Variation Id:
1186489
ClinVar RCV Id:
RCV001545595
dbSNP Id:
rs184515573
gnomAD v2:
21-47404032-C-G
gnomAD v3:
21-45984118-C-G
gnomAD v4:
21-45984118-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984118C>G , CM000683.2:g.45984118C>G | GRCh38 |
| NC_000021.8:g.47404032C>G , CM000683.1:g.47404032C>G | GRCh37 |
| NC_000021.7:g.46228460C>G | NCBI36 |
| NG_008674.1:g.7370C>G , LRG_475:g.7370C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.228-151C>G MANE Select | ENSP00000355180.3:n.228-151C>G | |
| ENST00000361866.7:c.228-151C>G | ENSP00000355180.3:n.228-151C>G | |
| ENST00000612273.1:c.228-151C>G | ENSP00000483630.1:n.228-151C>G | |
| NM_001848.2:c.228-151C>G , LRG_475t1:c.228-151C>G | NP_001839.2:n.228-151C>G | |
| NM_001848.3:c.228-151C>G MANE Select | NP_001839.2:n.228-151C>G |