Linked Data
ClinVar Variation Id:
1093177
ClinVar RCV Id:
RCV001413259
dbSNP Id:
rs766585233
ExAC:
21:45752959 G / A
gnomAD v2:
21-45752959-G-A
gnomAD v3:
21-44333076-G-A
gnomAD v4:
21-44333076-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333076G>A , CM000683.2:g.44333076G>A | GRCh38 |
| NC_000021.8:g.45752959G>A , CM000683.1:g.45752959G>A | GRCh37 |
| NC_000021.7:g.44577387G>A | NCBI36 |
| NG_032952.1:g.11327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.330C>T MANE Select | ENSP00000344566.4:p.Thr110= | |
| ENST00000325223.7:c.330C>T | ENSP00000317302.7:p.Thr110= | |
| ENST00000339818.8:c.330C>T | ENSP00000344566.4:p.Thr110= | |
| ENST00000397956.7:c.330C>T | ENSP00000381047.3:p.Thr110= | |
| ENST00000462742.1:n.2501C>T | ||
| ENST00000478674.1:n.389C>T | ||
| ENST00000496321.5:n.446C>T | ||
| NM_001271440.1:c.330C>T | NP_001258369.1:p.Thr110= | |
| NM_001271441.1:c.330C>T | NP_001258370.1:p.Thr110= | |
| NM_001271442.1:c.207C>T | NP_001258371.1:p.Thr69= | |
| NM_004928.2:c.330C>T | NP_004919.1:p.Thr110= | |
| XM_006724051.2:c.405C>T | XP_006724114.1:p.Thr135= | |
| XM_006724052.2:c.405C>T | XP_006724115.1:p.Thr135= | |
| XM_006724053.2:c.6C>T | XP_006724116.1:p.Thr2= | |
| XR_937571.1:n.533C>T | ||
| XM_006724051.3:c.405C>T | XP_006724114.1:p.Thr135= | |
| XM_006724053.3:c.6C>T | XP_006724116.1:p.Thr2= | |
| XM_017028470.1:c.534C>T | XP_016883959.1:p.Thr178= | |
| XM_017028471.1:c.279C>T | XP_016883960.1:p.Thr93= | |
| XM_017028472.1:c.6C>T | XP_016883961.1:p.Thr2= | |
| XR_937571.2:n.540C>T | ||
| NM_004928.3:c.330C>T MANE Select | NP_004919.1:p.Thr110= | |
| NM_001271440.2:c.330C>T | NP_001258369.1:p.Thr110= | |
| NM_001271441.2:c.330C>T | NP_001258370.1:p.Thr110= |