Linked Data
ClinVar Variation Id:
1025296
ClinVar RCV Id:
RCV001325597
dbSNP Id:
rs2032550979
gnomAD v4:
16-13947904-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947904A>T , CM000678.2:g.13947904A>T | GRCh38 |
| NC_000016.9:g.14041761A>T , CM000678.1:g.14041761A>T | GRCh37 |
| NC_000016.8:g.13949262A>T | NCBI36 |
| NG_011442.1:g.32748A>T , LRG_463:g.32748A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2446A>T | ENSP00000507912.1:p.Thr816Ser | |
| ENST00000683962.1:c.*2002A>T | ENSP00000506854.1:n.*2002A>T | |
| ENST00000311895.8:c.2308A>T MANE Select | ENSP00000310520.7:p.Thr770Ser | |
| ENST00000311895.7:c.2308A>T | ENSP00000310520.7:p.Thr770Ser | |
| ENST00000389138.7:n.1585A>T | ||
| ENST00000462862.1:c.621A>T | ENSP00000461322.1:n.621A>T | |
| NM_005236.2:c.2308A>T , LRG_463t1:c.2308A>T | NP_005227.1:p.Thr770Ser | |
| XM_011522424.1:c.2446A>T | XP_011520726.1:p.Thr816Ser | |
| XM_011522425.1:c.1765A>T | XP_011520727.1:p.Thr589Ser | |
| XM_011522426.1:c.1519A>T | XP_011520728.1:p.Thr507Ser | |
| XM_011522427.1:c.958A>T | XP_011520729.1:p.Thr320Ser | |
| XR_932805.1:n.2467A>T | ||
| XM_011522424.3:c.2446A>T | XP_011520726.1:p.Thr816Ser | |
| XM_017023043.2:c.1519A>T | XP_016878532.1:p.Thr507Ser | |
| NM_005236.3:c.2308A>T MANE Select | NP_005227.1:p.Thr770Ser |