Linked Data
dbSNP Id:
rs1349650193
gnomAD v2:
10-13325755-T-A
gnomAD v3:
10-13283755-T-A
gnomAD v4:
10-13283755-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13283755T>A , CM000672.2:g.13283755T>A | GRCh38 |
| NC_000010.10:g.13325755T>A , CM000672.1:g.13325755T>A | GRCh37 |
| NC_000010.9:g.13365761T>A | NCBI36 |
| NG_012862.1:g.21376A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.763A>T MANE Select | ENSP00000263038.4:p.Thr255Ser | |
| ENST00000263038.8:c.763A>T | ENSP00000263038.4:p.Thr255Ser | |
| ENST00000396913.6:c.463A>T | ENSP00000380121.2:p.Thr155Ser | |
| ENST00000396920.7:c.712A>T | ENSP00000380126.3:p.Thr238Ser | |
| ENST00000453759.6:c.463A>T | ENSP00000412525.2:p.Thr155Ser | |
| NM_001037537.1:c.463A>T | NP_001032626.1:p.Thr155Ser | |
| NM_006214.3:c.763A>T | NP_006205.1:p.Thr255Ser | |
| XM_005252469.2:c.544A>T | XP_005252526.1:p.Thr182Ser | |
| NM_001323080.1:c.463A>T | NP_001310009.1:p.Thr155Ser | |
| NM_001323082.1:c.769A>T | NP_001310011.1:p.Thr257Ser | |
| NM_001323083.1:c.499A>T | NP_001310012.1:p.Thr167Ser | |
| NM_001323084.1:c.469A>T | NP_001310013.1:p.Thr157Ser | |
| NM_006214.4:c.763A>T MANE Select | NP_006205.1:p.Thr255Ser | |
| NM_001037537.2:c.463A>T | NP_001032626.1:p.Thr155Ser | |
| NM_001323080.2:c.463A>T | NP_001310009.1:p.Thr155Ser | |
| NM_001323082.2:c.769A>T | NP_001310011.1:p.Thr257Ser | |
| NM_001323083.2:c.499A>T | NP_001310012.1:p.Thr167Ser | |
| NM_001323084.2:c.469A>T | NP_001310013.1:p.Thr157Ser |