Linked Data
ClinVar Variation Id:
1126980
ClinVar RCV Id:
RCV001459235
dbSNP Id:
rs1346797747
gnomAD v2:
9-34648333-A-G
gnomAD v3:
9-34648336-A-G
gnomAD v4:
9-34648336-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648336A>G , CM000671.2:g.34648336A>G | GRCh38 |
| NC_000009.11:g.34648333A>G , CM000671.1:g.34648333A>G | GRCh37 |
| NC_000009.10:g.34638333A>G | NCBI36 |
| NG_009029.1:g.6699A>G | |
| NG_028966.1:g.1152A>G | |
| NG_009029.2:g.6748A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*155A>G | ENSP00000509954.1:n.*155A>G | |
| ENST00000378842.8:c.567A>G MANE Select | ENSP00000368119.4:p.Val189= | |
| ENST00000378842.7:c.567A>G | ENSP00000368119.3:p.Val189= | |
| ENST00000450095.6:c.240A>G | ENSP00000401956.2:p.Val80= | |
| ENST00000472111.5:n.823A>G | ||
| ENST00000473506.6:c.*155A>G | ENSP00000432839.2:n.*155A>G | |
| ENST00000473529.5:n.726A>G | ||
| ENST00000485531.1:n.1161A>G | ||
| ENST00000487381.5:n.952A>G | ||
| ENST00000489643.6:n.342A>G | ||
| ENST00000554085.5:c.*311A>G | ENSP00000450419.1:n.*311A>G | |
| ENST00000554139.5:n.813A>G | ||
| ENST00000554550.5:c.*187A>G | ENSP00000451435.1:n.*187A>G | |
| ENST00000554638.5:n.1039A>G | ||
| ENST00000554897.5:c.*254A>G | ENSP00000450942.1:n.*254A>G | |
| ENST00000554944.5:n.916A>G | ||
| ENST00000555020.5:n.723A>G | ||
| ENST00000555086.5:n.571A>G | ||
| ENST00000555214.5:n.388A>G | ||
| ENST00000556244.1:c.554A>G | ||
| ENST00000556278.1:c.312A>G | ENSP00000451792.1:p.Val104= | |
| ENST00000556494.5:n.688A>G | ||
| ENST00000557706.5:n.1129A>G | ||
| NM_000155.3:c.567A>G | NP_000146.2:p.Val189= | |
| NM_001258332.1:c.240A>G | NP_001245261.1:p.Val80= | |
| NM_000155.4:c.567A>G MANE Select | NP_000146.2:p.Val189= | |
| NM_001258332.2:c.240A>G | NP_001245261.1:p.Val80= |