Linked Data
ClinVar Variation Id:
9532
ClinVar RCV Id:
RCV000010140
dbSNP Id:
rs137852606
PubMed:
PMID:14617022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225403445G>C , CM000663.2:g.225403445G>C | GRCh38 |
| NC_000001.10:g.225591147G>C , CM000663.1:g.225591147G>C | GRCh37 |
| NC_000001.9:g.223657770G>C | NCBI36 |
| NG_008099.1:g.30373C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272163.9:c.1706C>G MANE Select | ENSP00000272163.4:p.Pro569Arg | |
| ENST00000651341.1:c.*872C>G | ENSP00000499114.1:n.*872C>G | |
| ENST00000272163.8:c.1706C>G | ENSP00000272163.4:p.Pro569Arg | |
| ENST00000338179.6:c.1706C>G | ENSP00000339883.2:p.Pro569Arg | |
| ENST00000441022.1:n.181C>G | ||
| NM_002296.3:c.1706C>G | NP_002287.2:p.Pro569Arg | |
| NM_194442.2:c.1706C>G | NP_919424.1:p.Pro569Arg | |
| XM_005273125.2:c.1580C>G | XP_005273182.1:p.Pro527Arg | |
| XM_011544185.1:c.1706C>G | XP_011542487.1:p.Pro569Arg | |
| XM_011544186.1:c.1625C>G | XP_011542488.1:p.Pro542Arg | |
| XM_005273125.3:c.1580C>G | XP_005273182.1:p.Pro527Arg | |
| XM_011544185.3:c.1706C>G | XP_011542487.1:p.Pro569Arg | |
| XR_001737168.2:n.1729C>G | ||
| NM_002296.4:c.1706C>G MANE Select | NP_002287.2:p.Pro569Arg | |
| NM_194442.3:c.1706C>G | NP_919424.1:p.Pro569Arg |