Linked Data
ClinVar Variation Id:
25226
dbSNP Id:
rs111033739
gnomAD v2:
9-34648367-C-T
gnomAD v3:
9-34648370-C-T
gnomAD v4:
9-34648370-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648370C>T , CM000671.2:g.34648370C>T | GRCh38 |
| NC_000009.11:g.34648367C>T , CM000671.1:g.34648367C>T | GRCh37 |
| NC_000009.10:g.34638367C>T | NCBI36 |
| NG_009029.1:g.6733C>T | |
| NG_028966.1:g.1186C>T | |
| NG_009029.2:g.6782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*189C>T | ENSP00000509954.1:n.*189C>T | |
| ENST00000378842.8:c.601C>T MANE Select | ENSP00000368119.4:p.Arg201Cys | |
| ENST00000378842.7:c.601C>T | ENSP00000368119.3:p.Arg201Cys | |
| ENST00000450095.6:c.274C>T | ENSP00000401956.2:p.Arg92Cys | |
| ENST00000472111.5:n.857C>T | ||
| ENST00000473506.6:c.*189C>T | ENSP00000432839.2:n.*189C>T | |
| ENST00000473529.5:n.760C>T | ||
| ENST00000485531.1:n.1195C>T | ||
| ENST00000487381.5:n.986C>T | ||
| ENST00000489643.6:n.376C>T | ||
| ENST00000554085.5:c.*345C>T | ENSP00000450419.1:n.*345C>T | |
| ENST00000554139.5:n.847C>T | ||
| ENST00000554550.5:c.*221C>T | ENSP00000451435.1:n.*221C>T | |
| ENST00000554638.5:n.1073C>T | ||
| ENST00000554897.5:c.*288C>T | ENSP00000450942.1:n.*288C>T | |
| ENST00000554944.5:n.950C>T | ||
| ENST00000555020.5:n.757C>T | ||
| ENST00000555086.5:n.605C>T | ||
| ENST00000555214.5:n.422C>T | ||
| ENST00000556244.1:c.588C>T | ||
| ENST00000556278.1:c.346C>T | ENSP00000451792.1:p.Arg116Cys | |
| ENST00000556494.5:n.722C>T | ||
| ENST00000557706.5:n.1163C>T | ||
| NM_000155.3:c.601C>T | NP_000146.2:p.Arg201Cys | |
| NM_001258332.1:c.274C>T | NP_001245261.1:p.Arg92Cys | |
| NM_000155.4:c.601C>T MANE Select | NP_000146.2:p.Arg201Cys | |
| NM_001258332.2:c.274C>T | NP_001245261.1:p.Arg92Cys |