Linked Data
ClinVar Variation Id:
532458
ClinVar RCV Id:
RCV000639242
dbSNP Id:
rs1555517888
gnomAD v4:
16-68829742-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829742C>G , CM000678.2:g.68829742C>G | GRCh38 |
| NC_000016.9:g.68863645C>G , CM000678.1:g.68863645C>G | GRCh37 |
| NC_000016.8:g.67421146C>G | NCBI36 |
| NG_008021.1:g.97451C>G , LRG_301:g.97451C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2384C>G MANE Select | ENSP00000261769.4:p.Pro795Arg | |
| ENST00000261769.9:c.2384C>G | ENSP00000261769.4:p.Pro795Arg | |
| ENST00000422392.6:c.2201C>G | ENSP00000414946.2:p.Pro734Arg | |
| ENST00000562118.1:n.602C>G | ||
| ENST00000562836.5:n.2455C>G | ||
| ENST00000566510.5:c.*1050C>G | ENSP00000458139.1:n.*1050C>G | |
| ENST00000566612.5:c.*624C>G | ENSP00000454782.1:n.*624C>G | |
| ENST00000611625.4:c.2447C>G | ENSP00000481063.1:p.Pro816Arg | |
| ENST00000612417.4:c.1853+3188C>G | ENSP00000478360.1:n.1853+3188C>G | |
| ENST00000621016.4:c.1866-4461C>G | ENSP00000480664.1:n.1866-4461C>G | |
| NM_004360.3:c.2384C>G , LRG_301t1:c.2384C>G | NP_004351.1:p.Pro795Arg | |
| XM_011523488.1:c.1649C>G | XP_011521790.1:p.Pro550Arg | |
| XM_011523489.1:c.1649C>G | XP_011521791.1:p.Pro550Arg | |
| NM_001317184.1:c.2201C>G | NP_001304113.1:p.Pro734Arg | |
| NM_001317185.1:c.836C>G | NP_001304114.1:p.Pro279Arg | |
| NM_001317186.1:c.419C>G | NP_001304115.1:p.Pro140Arg | |
| NM_004360.4:c.2384C>G | NP_004351.1:p.Pro795Arg | |
| NM_004360.5:c.2384C>G MANE Select | NP_004351.1:p.Pro795Arg | |
| NM_001317184.2:c.2201C>G | NP_001304113.1:p.Pro734Arg | |
| NM_001317185.2:c.836C>G | NP_001304114.1:p.Pro279Arg | |
| NM_001317186.2:c.419C>G | NP_001304115.1:p.Pro140Arg |