Linked Data
ClinVar Variation Id:
1457366
ClinVar RCV Id:
RCV001953723
dbSNP Id:
rs111033704
gnomAD v4:
9-34647916-G-A
PubMed:
PMID:25592817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647916G>A , CM000671.2:g.34647916G>A | GRCh38 |
| NC_000009.11:g.34647913G>A , CM000671.1:g.34647913G>A | GRCh37 |
| NC_000009.10:g.34637913G>A | NCBI36 |
| NG_009029.1:g.6279G>A | |
| NG_028966.1:g.732G>A | |
| NG_009029.2:g.6328G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*50G>A | ENSP00000509954.1:n.*50G>A | |
| ENST00000378842.8:c.462G>A MANE Select | ENSP00000368119.4:p.Trp154Ter | |
| ENST00000378842.7:c.462G>A | ENSP00000368119.3:p.Trp154Ter | |
| ENST00000450095.6:c.135G>A | ENSP00000401956.2:p.Trp45Ter | |
| ENST00000465543.6:n.801G>A | ||
| ENST00000472111.5:n.718G>A | ||
| ENST00000473506.6:c.*50G>A | ENSP00000432839.2:n.*50G>A | |
| ENST00000473529.5:n.598G>A | ||
| ENST00000485531.1:n.903G>A | ||
| ENST00000487381.5:n.847G>A | ||
| ENST00000489643.6:n.283-199G>A | ||
| ENST00000554085.5:c.*206G>A | ENSP00000450419.1:n.*206G>A | |
| ENST00000554139.5:n.641G>A | ||
| ENST00000554550.5:c.*82G>A | ENSP00000451435.1:n.*82G>A | |
| ENST00000554638.5:n.934G>A | ||
| ENST00000554897.5:c.*82G>A | ENSP00000450942.1:n.*82G>A | |
| ENST00000554944.5:n.658G>A | ||
| ENST00000555020.5:n.618G>A | ||
| ENST00000555086.5:n.466G>A | ||
| ENST00000555214.5:n.262-132G>A | ||
| ENST00000556244.1:c.449G>A | ||
| ENST00000556278.1:c.253-199G>A | ENSP00000451792.1:n.253-199G>A | |
| ENST00000556494.5:n.583G>A | ||
| ENST00000557706.5:n.1024G>A | ||
| NM_000155.3:c.462G>A | NP_000146.2:p.Trp154Ter | |
| NM_001258332.1:c.135G>A | NP_001245261.1:p.Trp45Ter | |
| NM_000155.4:c.462G>A MANE Select | NP_000146.2:p.Trp154Ter | |
| NM_001258332.2:c.135G>A | NP_001245261.1:p.Trp45Ter |