Linked Data
dbSNP Id:
rs780080273
ExAC:
21:47407582 C / G
gnomAD v2:
21-47407582-C-G
gnomAD v4:
21-45987668-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987668C>G , CM000683.2:g.45987668C>G | GRCh38 |
| NC_000021.8:g.47407582C>G , CM000683.1:g.47407582C>G | GRCh37 |
| NC_000021.7:g.46232010C>G | NCBI36 |
| NG_008674.1:g.10920C>G , LRG_475:g.10920C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.804+14C>G MANE Select | ENSP00000355180.3:n.804+14C>G | |
| ENST00000361866.7:c.804+14C>G | ENSP00000355180.3:n.804+14C>G | |
| ENST00000612273.1:c.804+14C>G | ENSP00000483630.1:n.804+14C>G | |
| NM_001848.2:c.804+14C>G , LRG_475t1:c.804+14C>G | NP_001839.2:n.804+14C>G | |
| NM_001848.3:c.804+14C>G MANE Select | NP_001839.2:n.804+14C>G |