Linked Data
dbSNP Id:
rs10769945
gnomAD v2:
11-1985127-C-T
gnomAD v3:
11-1963897-C-T
gnomAD v4:
11-1963897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1963897C>T , CM000673.2:g.1963897C>T | GRCh38 |
| NC_000011.9:g.1985127C>T , CM000673.1:g.1985127C>T | GRCh37 |
| NC_000011.8:g.1941703C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397294.7:c.298-8662C>T | ENSP00000380462.3:n.298-8662C>T | |
| ENST00000397297.7:c.298-8662C>T | ENSP00000380465.3:n.298-8662C>T | |
| XM_011520273.1:c.298-8662C>T | XP_011518575.1:n.298-8662C>T | |
| XM_011520274.1:c.292-8662C>T | XP_011518576.1:n.292-8662C>T | |
| XM_011520275.1:c.298-8662C>T | XP_011518577.1:n.298-8662C>T | |
| XM_011520276.1:c.298-8662C>T | XP_011518578.1:n.298-8662C>T | |
| XM_011520275.2:c.298-8662C>T | XP_011518577.1:n.298-8662C>T | |
| XM_011520276.3:c.298-8662C>T | XP_011518578.1:n.298-8662C>T | |
| NM_001400176.1:c.298-8662C>T | NP_001387105.1:n.298-8662C>T | |
| NM_001400179.1:c.298-8662C>T | NP_001387108.1:n.298-8662C>T |