Linked Data
ClinVar Variation Id:
3614
ClinVar RCV Id:
RCV003415643
dbSNP Id:
rs75391579
ExAC:
9:34648167 A / G
gnomAD v2:
9-34648167-A-G
gnomAD v3:
9-34648170-A-G
gnomAD v4:
9-34648170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648170A>G , CM000671.2:g.34648170A>G | GRCh38 |
| NC_000009.11:g.34648167A>G , CM000671.1:g.34648167A>G | GRCh37 |
| NC_000009.10:g.34638167A>G | NCBI36 |
| NG_009029.1:g.6533A>G | |
| NG_028966.1:g.986A>G | |
| NG_009029.2:g.6582A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*151A>G | ENSP00000509954.1:n.*151A>G | |
| ENST00000378842.8:c.563A>G MANE Select | ENSP00000368119.4:p.Gln188Arg | |
| ENST00000378842.7:c.563A>G | ENSP00000368119.3:p.Gln188Arg | |
| ENST00000450095.6:c.236A>G | ENSP00000401956.2:p.Gln79Arg | |
| ENST00000465543.6:n.902A>G | ||
| ENST00000472111.5:n.819A>G | ||
| ENST00000473506.6:c.*151A>G | ENSP00000432839.2:n.*151A>G | |
| ENST00000473529.5:n.722A>G | ||
| ENST00000485531.1:n.1157A>G | ||
| ENST00000487381.5:n.948A>G | ||
| ENST00000489643.6:n.338A>G | ||
| ENST00000554085.5:c.*307A>G | ENSP00000450419.1:n.*307A>G | |
| ENST00000554139.5:n.809A>G | ||
| ENST00000554550.5:c.*183A>G | ENSP00000451435.1:n.*183A>G | |
| ENST00000554638.5:n.1035A>G | ||
| ENST00000554897.5:c.*250A>G | ENSP00000450942.1:n.*250A>G | |
| ENST00000554944.5:n.912A>G | ||
| ENST00000555020.5:n.719A>G | ||
| ENST00000555086.5:n.567A>G | ||
| ENST00000555214.5:n.384A>G | ||
| ENST00000556244.1:c.550A>G | ||
| ENST00000556278.1:c.308A>G | ENSP00000451792.1:p.Gln103Arg | |
| ENST00000556494.5:n.684A>G | ||
| ENST00000557706.5:n.1125A>G | ||
| NM_000155.3:c.563A>G | NP_000146.2:p.Gln188Arg | |
| NM_001258332.1:c.236A>G | NP_001245261.1:p.Gln79Arg | |
| NM_000155.4:c.563A>G MANE Select | NP_000146.2:p.Gln188Arg | |
| NM_001258332.2:c.236A>G | NP_001245261.1:p.Gln79Arg |