Linked Data
ClinVar Variation Id:
466404
dbSNP Id:
rs6772054
ExAC:
3:100467262 A / C
gnomAD v2:
3-100467262-A-C
gnomAD v3:
3-100748418-A-C
gnomAD v4:
3-100748418-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100748418A>C , CM000665.2:g.100748418A>C | GRCh38 |
| NC_000003.11:g.100467262A>C , CM000665.1:g.100467262A>C | GRCh37 |
| NC_000003.10:g.101949952A>C | NCBI36 |
| NG_027821.1:g.44129A>C | |
| NG_027821.2:g.44129A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240851.9:c.1090A>C MANE Select | ENSP00000240851.4:p.Thr364Pro | |
| ENST00000418917.7:c.*260A>C | ENSP00000397182.3:n.*260A>C | |
| ENST00000463568.6:c.1078A>C | ENSP00000419504.2:p.Thr360Pro | |
| ENST00000487505.6:c.1090A>C | ENSP00000420797.2:p.Thr364Pro | |
| ENST00000490574.6:c.1090A>C | ENSP00000419960.1:p.Thr364Pro | |
| ENST00000615993.2:c.*276A>C | ENSP00000479269.2:n.*276A>C | |
| ENST00000620299.5:c.*276A>C | ENSP00000479981.1:n.*276A>C | |
| ENST00000674615.1:c.1090A>C | ENSP00000502734.1:p.Thr364Pro | |
| ENST00000674645.1:c.1078A>C | ENSP00000501892.1:p.Thr360Pro | |
| ENST00000674699.1:c.*347A>C | ENSP00000502175.1:n.*347A>C | |
| ENST00000674758.1:c.1078A>C | ENSP00000502502.1:p.Thr360Pro | |
| ENST00000674798.1:n.3937A>C | ||
| ENST00000675011.1:c.*385A>C | ENSP00000501745.1:n.*385A>C | |
| ENST00000675047.1:c.1078A>C | ENSP00000502497.1:p.Thr360Pro | |
| ENST00000675243.1:c.1090A>C | ENSP00000502592.1:p.Thr364Pro | |
| ENST00000675246.1:c.1086A>C | ENSP00000501620.1:p.Leu362Phe | |
| ENST00000675420.1:c.1078A>C | ENSP00000502516.1:p.Thr360Pro | |
| ENST00000675499.1:c.1090A>C | ENSP00000502450.1:p.Thr364Pro | |
| ENST00000675543.1:c.*276A>C | ENSP00000502229.1:n.*276A>C | |
| ENST00000675553.1:c.1090A>C | ENSP00000501815.1:p.Thr364Pro | |
| ENST00000675586.1:c.*276A>C | ENSP00000502329.1:n.*276A>C | |
| ENST00000675591.1:c.*647A>C | ENSP00000501641.1:n.*647A>C | |
| ENST00000675692.1:c.1126A>C | ENSP00000502034.1:p.Thr376Pro | |
| ENST00000675890.1:c.*260A>C | ENSP00000502537.1:n.*260A>C | |
| ENST00000675958.1:c.*260A>C | ENSP00000502025.1:n.*260A>C | |
| ENST00000676010.1:n.5318A>C | ||
| ENST00000676054.1:c.*347A>C | ENSP00000502051.1:n.*347A>C | |
| ENST00000676111.1:c.*276A>C | ENSP00000502139.1:n.*276A>C | |
| ENST00000676276.1:c.*324A>C | ENSP00000502372.1:n.*324A>C | |
| ENST00000676308.1:c.*276A>C | ENSP00000502697.1:n.*276A>C | |
| ENST00000676395.1:c.1090A>C | ENSP00000502071.1:p.Thr364Pro | |
| ENST00000676431.1:c.1078A>C | ENSP00000502698.1:p.Thr360Pro | |
| ENST00000240851.8:c.1090A>C | ENSP00000240851.4:p.Thr364Pro | |
| ENST00000418917.6:c.1078A>C | ENSP00000397182.2:p.Thr360Pro | |
| ENST00000476228.5:c.1078A>C | ENSP00000417952.1:p.Thr360Pro | |
| ENST00000481203.1:n.2726A>C | ||
| ENST00000490574.5:c.1090A>C | ENSP00000419960.1:p.Thr364Pro | |
| ENST00000612059.4:c.1077A>C | ENSP00000477562.1:p.Leu359Phe | |
| ENST00000615993.1:c.1131A>C | ENSP00000479269.1:n.1131A>C | |
| NM_001007565.2:c.1090A>C | NP_001007566.1:p.Thr364Pro | |
| NM_001195478.1:c.1090A>C | NP_001182407.1:p.Thr364Pro | |
| NM_001195479.1:c.1078A>C | NP_001182408.1:p.Thr360Pro | |
| NM_006070.5:c.1090A>C | NP_006061.2:p.Thr364Pro | |
| XM_005247066.1:c.1078A>C | XP_005247123.1:p.Thr360Pro | |
| XM_006713472.1:c.1090A>C | XP_006713535.1:p.Thr364Pro | |
| XM_006713473.1:c.1090A>C | XP_006713536.1:p.Thr364Pro | |
| XM_011512334.1:c.1090A>C | XP_011510636.1:p.Thr364Pro | |
| XM_005247066.2:c.1078A>C | XP_005247123.1:p.Thr360Pro | |
| XM_017005527.1:c.1078A>C | XP_016861016.1:p.Thr360Pro | |
| NM_006070.6:c.1090A>C MANE Select | NP_006061.2:p.Thr364Pro | |
| NM_001195478.2:c.1090A>C | NP_001182407.1:p.Thr364Pro | |
| NM_001195479.2:c.1078A>C | NP_001182408.1:p.Thr360Pro |