Linked Data
ClinVar Variation Id:
1107193
ClinVar RCV Id:
RCV001432187
dbSNP Id:
rs2132341711
gnomAD v4:
9-34647198-A-T
MyVariant Identifiers:
chr9:g.34647195A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647198A>T , CM000671.2:g.34647198A>T | GRCh38 |
| NC_000009.11:g.34647195A>T , CM000671.1:g.34647195A>T | GRCh37 |
| NC_000009.10:g.34637195A>T | NCBI36 |
| NG_009029.1:g.5561A>T | |
| NG_028966.1:g.14A>T | |
| NG_009029.2:g.5610A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.192A>T | ENSP00000509954.1:p.Thr64= | |
| ENST00000378842.8:c.192A>T MANE Select | ENSP00000368119.4:p.Thr64= | |
| ENST00000378842.7:c.192A>T | ENSP00000368119.3:p.Thr64= | |
| ENST00000450095.6:c.-11A>T | ENSP00000401956.2:n.-11A>T | |
| ENST00000465543.6:n.531A>T | ||
| ENST00000468099.2:n.232A>T | ||
| ENST00000472111.5:n.233A>T | ||
| ENST00000473506.6:c.192A>T | ENSP00000432839.2:p.Thr64= | |
| ENST00000473529.5:n.239A>T | ||
| ENST00000485531.1:n.185A>T | ||
| ENST00000487381.5:n.218A>T | ||
| ENST00000489643.6:n.222A>T | ||
| ENST00000554085.5:c.192A>T | ENSP00000450419.1:p.Thr64= | |
| ENST00000554139.5:n.245A>T | ||
| ENST00000554330.5:n.189A>T | ||
| ENST00000554550.5:c.192A>T | ENSP00000451435.1:p.Thr64= | |
| ENST00000554638.5:n.216A>T | ||
| ENST00000554897.5:c.192A>T | ENSP00000450942.1:p.Thr64= | |
| ENST00000554944.5:n.222A>T | ||
| ENST00000555020.5:n.222A>T | ||
| ENST00000555086.5:n.196A>T | ||
| ENST00000555214.5:n.201A>T | ||
| ENST00000556157.1:n.299A>T | ||
| ENST00000556244.1:c.76A>T | ||
| ENST00000556278.1:c.192A>T | ENSP00000451792.1:p.Thr64= | |
| ENST00000556403.5:n.205A>T | ||
| ENST00000556494.5:n.224A>T | ||
| ENST00000557541.5:n.385A>T | ||
| ENST00000557706.5:n.306A>T | ||
| NM_000155.3:c.192A>T | NP_000146.2:p.Thr64= | |
| NM_001258332.1:c.-11A>T | NP_001245261.1:n.-11A>T | |
| NM_000155.4:c.192A>T MANE Select | NP_000146.2:p.Thr64= | |
| NM_001258332.2:c.-11A>T | NP_001245261.1:n.-11A>T |