Linked Data
ClinVar Variation Id:
25114
ClinVar RCV Id:
RCV000022040
dbSNP Id:
rs111033848
gnomAD v4:
9-34646729-C-T
PubMed:
PMID:19375122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646729C>T , CM000671.2:g.34646729C>T | GRCh38 |
| NC_000009.11:g.34646726C>T , CM000671.1:g.34646726C>T | GRCh37 |
| NC_000009.10:g.34636726C>T | NCBI36 |
| NG_009029.1:g.5092C>T | |
| NG_009029.2:g.5141C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.25C>T | ENSP00000509954.1:p.Gln9Ter | |
| ENST00000378842.8:c.25C>T MANE Select | ENSP00000368119.4:p.Gln9Ter | |
| ENST00000378842.7:c.25C>T | ENSP00000368119.3:p.Gln9Ter | |
| ENST00000450095.6:c.-178C>T | ENSP00000401956.2:n.-178C>T | |
| ENST00000465543.6:n.62C>T | ||
| ENST00000468099.2:n.97C>T | ||
| ENST00000472111.5:n.66C>T | ||
| ENST00000473506.6:c.25C>T | ENSP00000432839.2:p.Gln9Ter | |
| ENST00000473529.5:n.72C>T | ||
| ENST00000487381.5:n.51C>T | ||
| ENST00000489643.6:n.55C>T | ||
| ENST00000554085.5:c.25C>T | ENSP00000450419.1:p.Gln9Ter | |
| ENST00000554139.5:n.78C>T | ||
| ENST00000554550.5:c.25C>T | ENSP00000451435.1:p.Gln9Ter | |
| ENST00000554638.5:n.49C>T | ||
| ENST00000554897.5:c.25C>T | ENSP00000450942.1:p.Gln9Ter | |
| ENST00000554944.5:n.55C>T | ||
| ENST00000555020.5:n.55C>T | ||
| ENST00000555214.5:n.34C>T | ||
| ENST00000556278.1:c.25C>T | ENSP00000451792.1:p.Gln9Ter | |
| ENST00000557541.5:n.85C>T | ||
| ENST00000605275.1:n.261C>T | ||
| NM_000155.3:c.25C>T | NP_000146.2:p.Gln9Ter | |
| NM_001258332.1:c.-178C>T | NP_001245261.1:n.-178C>T | |
| NM_000155.4:c.25C>T MANE Select | NP_000146.2:p.Gln9Ter | |
| NM_001258332.2:c.-178C>T | NP_001245261.1:n.-178C>T |