Linked Data
ClinVar Variation Id:
283195
ClinVar RCV Id:
RCV000296283
dbSNP Id:
rs764444344
ExAC:
20:50405660 T / A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51789121T>A , CM000682.2:g.51789121T>A | GRCh38 |
| NC_000020.10:g.50405660T>A , CM000682.1:g.50405660T>A | GRCh37 |
| NC_000020.9:g.49839067T>A | NCBI36 |
| NG_008000.1:g.18389A>T , LRG_675:g.18389A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217086.9:c.2482A>T MANE Select | ENSP00000217086.4:p.Thr828Ser | |
| ENST00000217086.8:c.2482A>T | ENSP00000217086.4:p.Thr828Ser | |
| ENST00000371539.7:c.151A>T | ENSP00000360594.3:p.Thr51Ser | |
| ENST00000395997.3:c.1171A>T | ENSP00000379319.3:p.Thr391Ser | |
| NM_020436.3:c.2482A>T , LRG_675t1:c.2482A>T | NP_065169.1:p.Thr828Ser | |
| XM_005260467.2:c.2176A>T | XP_005260524.1:p.Thr726Ser | |
| XM_006723834.2:c.2176A>T | XP_006723897.1:p.Thr726Ser | |
| XM_011528919.1:c.2356A>T | XP_011527221.1:p.Thr786Ser | |
| XM_011528920.1:c.2176A>T | XP_011527222.1:p.Thr726Ser | |
| XM_011528921.1:c.2176A>T | XP_011527223.1:p.Thr726Ser | |
| XM_011528922.1:c.2176A>T | XP_011527224.1:p.Thr726Ser | |
| XM_011528923.1:c.1171A>T | XP_011527225.1:p.Thr391Ser | |
| NM_001318031.1:c.1171A>T | NP_001304960.1:p.Thr391Ser | |
| NM_020436.4:c.2482A>T | NP_065169.1:p.Thr828Ser | |
| XM_005260467.4:c.2176A>T | XP_005260524.1:p.Thr726Ser | |
| XM_011528921.2:c.2176A>T | XP_011527223.1:p.Thr726Ser | |
| XM_011528922.2:c.2176A>T | XP_011527224.1:p.Thr726Ser | |
| NM_020436.5:c.2482A>T MANE Select | NP_065169.1:p.Thr828Ser | |
| NM_001318031.2:c.1171A>T | NP_001304960.1:p.Thr391Ser |