Linked Data
ClinVar Variation Id:
93882
dbSNP Id:
rs398123638
ExAC:
21:47406607 C / G
gnomAD v2:
21-47406607-C-G
gnomAD v3:
21-45986693-C-G
gnomAD v4:
21-45986693-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45986693C>G , CM000683.2:g.45986693C>G | GRCh38 |
| NC_000021.8:g.47406607C>G , CM000683.1:g.47406607C>G | GRCh37 |
| NC_000021.7:g.46231035C>G | NCBI36 |
| NG_008674.1:g.9945C>G , LRG_475:g.9945C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.588+8C>G MANE Select | ENSP00000355180.3:n.588+8C>G | |
| ENST00000361866.7:c.588+8C>G | ENSP00000355180.3:n.588+8C>G | |
| ENST00000612273.1:c.588+8C>G | ENSP00000483630.1:n.588+8C>G | |
| NM_001848.2:c.588+8C>G , LRG_475t1:c.588+8C>G | NP_001839.2:n.588+8C>G | |
| NM_001848.3:c.588+8C>G MANE Select | NP_001839.2:n.588+8C>G |