Linked Data
ClinVar Variation Id:
572808
dbSNP Id:
rs200104203
gnomAD v2:
21-36164877-G-C
gnomAD v3:
21-34792580-G-C
gnomAD v4:
21-34792580-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792580G>C , CM000683.2:g.34792580G>C | GRCh38 |
| NC_000021.8:g.36164877G>C , CM000683.1:g.36164877G>C | GRCh37 |
| NC_000021.7:g.35086747G>C | NCBI36 |
| NG_011402.2:g.1197132C>G , LRG_482:g.1197132C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.998C>G MANE Select | ENSP00000501943.1:p.Pro333Arg | |
| ENST00000300305.7:c.998C>G | ENSP00000300305.3:p.Pro333Arg | |
| ENST00000344691.8:c.917C>G | ENSP00000340690.4:p.Pro306Arg | |
| ENST00000399240.5:c.725C>G | ENSP00000382184.1:p.Pro242Arg | |
| ENST00000437180.5:c.998C>G | ENSP00000409227.1:p.Pro333Arg | |
| ENST00000482318.5:c.*588C>G | ENSP00000477067.1:n.*588C>G | |
| NM_001001890.2:c.917C>G | NP_001001890.1:p.Pro306Arg | |
| NM_001754.4:c.998C>G , LRG_482t1:c.998C>G | NP_001745.2:p.Pro333Arg | |
| XM_005261068.3:c.962C>G | XP_005261125.1:p.Pro321Arg | |
| XM_005261069.3:c.806C>G | XP_005261126.1:p.Pro269Arg | |
| XM_011529766.1:c.998C>G | XP_011528068.1:p.Pro333Arg | |
| XM_011529767.1:c.959C>G | XP_011528069.1:p.Pro320Arg | |
| XM_011529768.1:c.767C>G | XP_011528070.1:p.Pro256Arg | |
| XR_937576.1:n.4602C>G | ||
| XM_005261069.4:c.806C>G | XP_005261126.1:p.Pro269Arg | |
| XM_011529766.2:c.998C>G | XP_011528068.1:p.Pro333Arg | |
| XM_011529767.2:c.959C>G | XP_011528069.1:p.Pro320Arg | |
| XM_011529768.2:c.767C>G | XP_011528070.1:p.Pro256Arg | |
| XM_017028487.1:c.845C>G | XP_016883976.1:p.Pro282Arg | |
| XR_937576.2:n.4649C>G | ||
| NM_001001890.3:c.917C>G | NP_001001890.1:p.Pro306Arg | |
| NM_001754.5:c.998C>G MANE Select | NP_001745.2:p.Pro333Arg |