Linked Data
ClinVar Variation Id:
25140
ClinVar RCV Id:
RCV000022070
dbSNP Id:
rs111033664
gnomAD v4:
9-34647244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647244C>T , CM000671.2:g.34647244C>T | GRCh38 |
| NC_000009.11:g.34647241C>T , CM000671.1:g.34647241C>T | GRCh37 |
| NC_000009.10:g.34637241C>T | NCBI36 |
| NG_009029.1:g.5607C>T | |
| NG_028966.1:g.60C>T | |
| NG_009029.2:g.5656C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.238C>T | ENSP00000509954.1:p.Arg80Ter | |
| ENST00000378842.8:c.238C>T MANE Select | ENSP00000368119.4:p.Arg80Ter | |
| ENST00000378842.7:c.238C>T | ENSP00000368119.3:p.Arg80Ter | |
| ENST00000450095.6:c.36C>T | ENSP00000401956.2:p.Ser12= | |
| ENST00000465543.6:n.577C>T | ||
| ENST00000468099.2:n.278C>T | ||
| ENST00000472111.5:n.279C>T | ||
| ENST00000473506.6:c.238C>T | ENSP00000432839.2:p.Arg80Ter | |
| ENST00000473529.5:n.285C>T | ||
| ENST00000485531.1:n.231C>T | ||
| ENST00000487381.5:n.264C>T | ||
| ENST00000489643.6:n.268C>T | ||
| ENST00000554085.5:c.238C>T | ENSP00000450419.1:p.Arg80Ter | |
| ENST00000554139.5:n.291C>T | ||
| ENST00000554330.5:n.235C>T | ||
| ENST00000554550.5:c.238C>T | ENSP00000451435.1:p.Arg80Ter | |
| ENST00000554638.5:n.262C>T | ||
| ENST00000554897.5:c.238C>T | ENSP00000450942.1:p.Arg80Ter | |
| ENST00000554944.5:n.268C>T | ||
| ENST00000555020.5:n.268C>T | ||
| ENST00000555086.5:n.242C>T | ||
| ENST00000555214.5:n.247C>T | ||
| ENST00000556157.1:n.345C>T | ||
| ENST00000556244.1:c.122C>T | ||
| ENST00000556278.1:c.238C>T | ENSP00000451792.1:p.Arg80Ter | |
| ENST00000556403.5:n.251C>T | ||
| ENST00000556494.5:n.270C>T | ||
| ENST00000557541.5:n.431C>T | ||
| ENST00000557706.5:n.352C>T | ||
| NM_000155.3:c.238C>T | NP_000146.2:p.Arg80Ter | |
| NM_001258332.1:c.36C>T | NP_001245261.1:p.Ser12= | |
| NM_000155.4:c.238C>T MANE Select | NP_000146.2:p.Arg80Ter | |
| NM_001258332.2:c.36C>T | NP_001245261.1:p.Ser12= |