Linked Data
ClinVar Variation Id:
785078
dbSNP Id:
rs148851166
ExAC:
3:193185130 G / A
gnomAD v2:
3-193185130-G-A
gnomAD v3:
3-193467341-G-A
gnomAD v4:
3-193467341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193467341G>A , CM000665.2:g.193467341G>A | GRCh38 |
| NC_000003.11:g.193185130G>A , CM000665.1:g.193185130G>A | GRCh37 |
| NC_000003.10:g.194667824G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342695.9:c.1089C>T MANE Select | ENSP00000339182.4:p.Thr363= | |
| ENST00000295548.3:c.1089C>T | ENSP00000295548.3:p.Thr363= | |
| ENST00000342695.8:c.1089C>T | ENSP00000339182.4:p.Thr363= | |
| ENST00000392443.7:c.1089C>T | ENSP00000376238.3:p.Thr363= | |
| ENST00000428352.5:c.8C>T | ||
| ENST00000450950.6:c.*532C>T | ENSP00000402023.2:n.*532C>T | |
| ENST00000490925.5:n.1197C>T | ||
| NM_032279.3:c.1089C>T | NP_115655.2:p.Thr363= | |
| XM_005247829.2:c.1089C>T | XP_005247886.1:p.Thr363= | |
| XM_011513232.1:c.1089C>T | XP_011511534.1:p.Thr363= | |
| XR_241512.2:n.1390C>T | ||
| XR_924191.1:n.1390C>T | ||
| XM_011513232.2:c.1089C>T | XP_011511534.1:p.Thr363= | |
| XM_017007318.1:c.762C>T | XP_016862807.1:p.Thr254= | |
| XM_017007319.1:c.1089C>T | XP_016862808.1:p.Thr363= | |
| XR_001740324.2:n.1159C>T | ||
| XR_001740325.1:n.1159C>T | ||
| XR_002959602.1:n.1323C>T | ||
| XR_924191.3:n.1159C>T | ||
| NM_032279.4:c.1089C>T MANE Select | NP_115655.2:p.Thr363= |