Linked Data
ClinVar Variation Id:
95930
dbSNP Id:
rs398124347
ExAC:
16:5131022 C / G
gnomAD v2:
16-5131022-C-G
gnomAD v3:
16-5081021-C-G
gnomAD v4:
16-5081021-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5081021C>G , CM000678.2:g.5081021C>G | GRCh38 |
| NC_000016.9:g.5131022C>G , CM000678.1:g.5131022C>G | GRCh37 |
| NC_000016.8:g.5071023C>G | NCBI36 |
| NG_009202.1:g.14213C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3173C>G | ||
| ENST00000682020.1:c.443C>G | ENSP00000508075.1:p.Pro148Arg | |
| ENST00000682206.1:c.*129C>G | ENSP00000508285.1:n.*129C>G | |
| ENST00000682314.1:n.1085C>G | ||
| ENST00000682327.1:c.509C>G | ENSP00000507058.1:p.Pro170Arg | |
| ENST00000682349.1:n.3179C>G | ||
| ENST00000682703.1:n.4005C>G | ||
| ENST00000682797.1:c.*129C>G | ENSP00000507582.1:n.*129C>G | |
| ENST00000682985.1:c.548C>G | ENSP00000507598.1:p.Pro183Arg | |
| ENST00000683433.1:c.293C>G | ENSP00000507463.1:p.Pro98Arg | |
| ENST00000683685.1:n.1911C>G | ||
| ENST00000683710.1:c.*1004C>G | ENSP00000506785.1:n.*1004C>G | |
| ENST00000683739.1:c.704C>G | ENSP00000507002.1:p.Pro235Arg | |
| ENST00000683772.1:n.1081C>G | ||
| ENST00000684008.1:c.975C>G | ENSP00000507962.1:n.975C>G | |
| ENST00000684190.1:c.998C>G | ENSP00000507554.1:p.Pro333Arg | |
| ENST00000684335.1:c.961+1214C>G | ENSP00000508112.1:n.961+1214C>G | |
| ENST00000262374.10:c.1037C>G MANE Select | ENSP00000262374.5:p.Pro346Arg | |
| ENST00000650085.1:n.1861C>G | ||
| ENST00000262374.9:c.1037C>G | ENSP00000262374.4:p.Pro346Arg | |
| ENST00000544428.1:c.704C>G | ENSP00000440019.1:p.Pro235Arg | |
| ENST00000588623.5:c.704C>G | ENSP00000468118.1:p.Pro235Arg | |
| ENST00000591822.5:c.*938C>G | ENSP00000467865.1:n.*938C>G | |
| NM_019109.4:c.1037C>G | NP_061982.3:p.Pro346Arg | |
| XM_011522565.1:c.704C>G | XP_011520867.1:p.Pro235Arg | |
| NM_001330504.1:c.704C>G | NP_001317433.1:p.Pro235Arg | |
| XM_017023457.2:c.998C>G | XP_016878946.1:p.Pro333Arg | |
| XM_017023458.1:c.704C>G | XP_016878947.1:p.Pro235Arg | |
| XR_932882.3:n.1066C>G | ||
| NM_019109.5:c.1037C>G MANE Select | NP_061982.3:p.Pro346Arg | |
| NM_001330504.2:c.704C>G | NP_001317433.1:p.Pro235Arg |