Linked Data
ClinVar Variation Id:
25228
dbSNP Id:
rs111033737
ExAC:
9:34648376 C / T
gnomAD v2:
9-34648376-C-T
gnomAD v3:
9-34648379-C-T
gnomAD v4:
9-34648379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648379C>T , CM000671.2:g.34648379C>T | GRCh38 |
| NC_000009.11:g.34648376C>T , CM000671.1:g.34648376C>T | GRCh37 |
| NC_000009.10:g.34638376C>T | NCBI36 |
| NG_009029.1:g.6742C>T | |
| NG_028966.1:g.1195C>T | |
| NG_009029.2:g.6791C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*198C>T | ENSP00000509954.1:n.*198C>T | |
| ENST00000378842.8:c.610C>T MANE Select | ENSP00000368119.4:p.Arg204Ter | |
| ENST00000378842.7:c.610C>T | ENSP00000368119.3:p.Arg204Ter | |
| ENST00000450095.6:c.283C>T | ENSP00000401956.2:p.Arg95Ter | |
| ENST00000472111.5:n.866C>T | ||
| ENST00000473506.6:c.*198C>T | ENSP00000432839.2:n.*198C>T | |
| ENST00000473529.5:n.769C>T | ||
| ENST00000487381.5:n.995C>T | ||
| ENST00000489643.6:n.385C>T | ||
| ENST00000554085.5:c.*354C>T | ENSP00000450419.1:n.*354C>T | |
| ENST00000554139.5:n.856C>T | ||
| ENST00000554550.5:c.*230C>T | ENSP00000451435.1:n.*230C>T | |
| ENST00000554638.5:n.1082C>T | ||
| ENST00000554944.5:n.959C>T | ||
| ENST00000555020.5:n.766C>T | ||
| ENST00000555086.5:n.614C>T | ||
| ENST00000555214.5:n.431C>T | ||
| ENST00000556244.1:c.597C>T | ||
| ENST00000556278.1:c.355C>T | ENSP00000451792.1:p.Arg119Ter | |
| ENST00000556494.5:n.731C>T | ||
| ENST00000557706.5:n.1172C>T | ||
| NM_000155.3:c.610C>T | NP_000146.2:p.Arg204Ter | |
| NM_001258332.1:c.283C>T | NP_001245261.1:p.Arg95Ter | |
| NM_000155.4:c.610C>T MANE Select | NP_000146.2:p.Arg204Ter | |
| NM_001258332.2:c.283C>T | NP_001245261.1:p.Arg95Ter |