Linked Data
dbSNP Id:
rs750774218
gnomAD v2:
21-45876553-C-G
gnomAD v3:
21-44456670-C-G
gnomAD v4:
21-44456670-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456670C>G , CM000683.2:g.44456670C>G | GRCh38 |
| NC_000021.8:g.45876553C>G , CM000683.1:g.45876553C>G | GRCh37 |
| NC_000021.7:g.44700981C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.26C>G MANE Select | ENSP00000291592.4:p.Pro9Arg | |
| ENST00000291592.5:c.26C>G | ENSP00000291592.4:p.Pro9Arg | |
| NM_030891.4:c.26C>G | NP_112153.1:p.Pro9Arg | |
| NM_030891.5:c.26C>G | NP_112153.1:p.Pro9Arg | |
| NM_030891.6:c.26C>G MANE Select | NP_112153.1:p.Pro9Arg |