Linked Data
ClinVar Variation Id:
25230
dbSNP Id:
rs111033743
gnomAD v2:
9-34648385-C-T
gnomAD v4:
9-34648388-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648388C>T , CM000671.2:g.34648388C>T | GRCh38 |
| NC_000009.11:g.34648385C>T , CM000671.1:g.34648385C>T | GRCh37 |
| NC_000009.10:g.34638385C>T | NCBI36 |
| NG_009029.1:g.6751C>T | |
| NG_028966.1:g.1204C>T | |
| NG_009029.2:g.6800C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*207C>T | ENSP00000509954.1:n.*207C>T | |
| ENST00000378842.8:c.619C>T MANE Select | ENSP00000368119.4:p.Gln207Ter | |
| ENST00000378842.7:c.619C>T | ENSP00000368119.3:p.Gln207Ter | |
| ENST00000450095.6:c.292C>T | ENSP00000401956.2:p.Gln98Ter | |
| ENST00000472111.5:n.875C>T | ||
| ENST00000473506.6:c.*207C>T | ENSP00000432839.2:n.*207C>T | |
| ENST00000473529.5:n.778C>T | ||
| ENST00000487381.5:n.1004C>T | ||
| ENST00000489643.6:n.394C>T | ||
| ENST00000554085.5:c.*363C>T | ENSP00000450419.1:n.*363C>T | |
| ENST00000554550.5:c.*239C>T | ENSP00000451435.1:n.*239C>T | |
| ENST00000554638.5:n.1091C>T | ||
| ENST00000554944.5:n.968C>T | ||
| ENST00000555020.5:n.775C>T | ||
| ENST00000555086.5:n.623C>T | ||
| ENST00000555214.5:n.440C>T | ||
| ENST00000556244.1:c.606C>T | ||
| ENST00000556278.1:c.364C>T | ENSP00000451792.1:p.Gln122Ter | |
| ENST00000556494.5:n.740C>T | ||
| ENST00000557706.5:n.1181C>T | ||
| NM_000155.3:c.619C>T | NP_000146.2:p.Gln207Ter | |
| NM_001258332.1:c.292C>T | NP_001245261.1:p.Gln98Ter | |
| NM_000155.4:c.619C>T MANE Select | NP_000146.2:p.Gln207Ter | |
| NM_001258332.2:c.292C>T | NP_001245261.1:p.Gln98Ter |