Linked Data
ClinVar Variation Id:
496861
dbSNP Id:
rs772416503
ExAC:
4:996908 C / G
gnomAD v2:
4-996908-C-G
gnomAD v3:
4-1003120-C-G
gnomAD v4:
4-1003120-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003120C>G , CM000666.2:g.1003120C>G | GRCh38 |
| NC_000004.11:g.996908C>G , CM000666.1:g.996908C>G | GRCh37 |
| NC_000004.10:g.986908C>G | NCBI36 |
| NG_008103.1:g.21124C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1487C>G | ENSP00000247933.4:p.Pro496Arg | |
| ENST00000514224.2:c.1487C>G MANE Select | ENSP00000425081.2:p.Pro496Arg | |
| ENST00000652070.1:n.1543C>G | ||
| ENST00000247933.8:c.1487C>G | ENSP00000247933.4:p.Pro496Arg | |
| ENST00000502829.1:n.289C>G | ||
| ENST00000514224.1:c.1091C>G | ENSP00000425081.1:p.Pro364Arg | |
| ENST00000514698.5:n.1594C>G | ||
| NM_000203.4:c.1487C>G | NP_000194.2:p.Pro496Arg | |
| NR_110313.1:n.1575C>G | ||
| XM_006713882.2:c.1091C>G | XP_006713945.1:p.Pro364Arg | |
| XM_011513459.1:c.1553C>G | XP_011511761.1:p.Pro518Arg | |
| XM_011513460.1:c.1346C>G | XP_011511762.1:p.Pro449Arg | |
| XM_011513461.1:c.1280C>G | XP_011511763.1:p.Pro427Arg | |
| XM_011513462.1:c.1199C>G | XP_011511764.1:p.Pro400Arg | |
| XM_011513463.1:c.1199C>G | XP_011511765.1:p.Pro400Arg | |
| XR_924947.1:n.1556C>G | ||
| NM_000203.5:c.1487C>G MANE Select | NP_000194.2:p.Pro496Arg | |
| NM_001363576.1:c.1091C>G | NP_001350505.1:p.Pro364Arg | |
| XM_011513461.2:c.1280C>G | XP_011511763.1:p.Pro427Arg | |
| XM_017008163.1:c.527C>G | XP_016863652.1:p.Pro176Arg |