Linked Data
ClinVar Variation Id:
37359
dbSNP Id:
rs111033693
ExAC:
9:34647893 C / T
gnomAD v2:
9-34647893-C-T
gnomAD v4:
9-34647896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647896C>T , CM000671.2:g.34647896C>T | GRCh38 |
| NC_000009.11:g.34647893C>T , CM000671.1:g.34647893C>T | GRCh37 |
| NC_000009.10:g.34637893C>T | NCBI36 |
| NG_009029.1:g.6259C>T | |
| NG_028966.1:g.712C>T | |
| NG_009029.2:g.6308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*30C>T | ENSP00000509954.1:n.*30C>T | |
| ENST00000378842.8:c.442C>T MANE Select | ENSP00000368119.4:p.Arg148Trp | |
| ENST00000378842.7:c.442C>T | ENSP00000368119.3:p.Arg148Trp | |
| ENST00000450095.6:c.115C>T | ENSP00000401956.2:p.Arg39Trp | |
| ENST00000465543.6:n.781C>T | ||
| ENST00000472111.5:n.698C>T | ||
| ENST00000473506.6:c.*30C>T | ENSP00000432839.2:n.*30C>T | |
| ENST00000473529.5:n.578C>T | ||
| ENST00000485531.1:n.883C>T | ||
| ENST00000487381.5:n.827C>T | ||
| ENST00000489643.6:n.283-219C>T | ||
| ENST00000554085.5:c.*186C>T | ENSP00000450419.1:n.*186C>T | |
| ENST00000554139.5:n.621C>T | ||
| ENST00000554550.5:c.*62C>T | ENSP00000451435.1:n.*62C>T | |
| ENST00000554638.5:n.914C>T | ||
| ENST00000554897.5:c.*62C>T | ENSP00000450942.1:n.*62C>T | |
| ENST00000554944.5:n.638C>T | ||
| ENST00000555020.5:n.598C>T | ||
| ENST00000555086.5:n.446C>T | ||
| ENST00000555214.5:n.262-152C>T | ||
| ENST00000556244.1:c.429C>T | ||
| ENST00000556278.1:c.253-219C>T | ENSP00000451792.1:n.253-219C>T | |
| ENST00000556494.5:n.563C>T | ||
| ENST00000557541.5:n.586C>T | ||
| ENST00000557706.5:n.1004C>T | ||
| NM_000155.3:c.442C>T | NP_000146.2:p.Arg148Trp | |
| NM_001258332.1:c.115C>T | NP_001245261.1:p.Arg39Trp | |
| NM_000155.4:c.442C>T MANE Select | NP_000146.2:p.Arg148Trp | |
| NM_001258332.2:c.115C>T | NP_001245261.1:p.Arg39Trp |