Linked Data
ClinVar Variation Id:
25213
dbSNP Id:
rs111033722
ExAC:
9:34648158 C / T
gnomAD v2:
9-34648158-C-T
gnomAD v3:
9-34648161-C-T
gnomAD v4:
9-34648161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648161C>T , CM000671.2:g.34648161C>T | GRCh38 |
| NC_000009.11:g.34648158C>T , CM000671.1:g.34648158C>T | GRCh37 |
| NC_000009.10:g.34638158C>T | NCBI36 |
| NG_009029.1:g.6524C>T | |
| NG_028966.1:g.977C>T | |
| NG_009029.2:g.6573C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*142C>T | ENSP00000509954.1:n.*142C>T | |
| ENST00000378842.8:c.554C>T MANE Select | ENSP00000368119.4:p.Pro185Leu | |
| ENST00000378842.7:c.554C>T | ENSP00000368119.3:p.Pro185Leu | |
| ENST00000450095.6:c.227C>T | ENSP00000401956.2:p.Pro76Leu | |
| ENST00000465543.6:n.893C>T | ||
| ENST00000472111.5:n.810C>T | ||
| ENST00000473506.6:c.*142C>T | ENSP00000432839.2:n.*142C>T | |
| ENST00000473529.5:n.713C>T | ||
| ENST00000485531.1:n.1148C>T | ||
| ENST00000487381.5:n.939C>T | ||
| ENST00000489643.6:n.329C>T | ||
| ENST00000554085.5:c.*298C>T | ENSP00000450419.1:n.*298C>T | |
| ENST00000554139.5:n.800C>T | ||
| ENST00000554550.5:c.*174C>T | ENSP00000451435.1:n.*174C>T | |
| ENST00000554638.5:n.1026C>T | ||
| ENST00000554897.5:c.*241C>T | ENSP00000450942.1:n.*241C>T | |
| ENST00000554944.5:n.903C>T | ||
| ENST00000555020.5:n.710C>T | ||
| ENST00000555086.5:n.558C>T | ||
| ENST00000555214.5:n.375C>T | ||
| ENST00000556244.1:c.541C>T | ||
| ENST00000556278.1:c.299C>T | ENSP00000451792.1:p.Pro100Leu | |
| ENST00000556494.5:n.675C>T | ||
| ENST00000557706.5:n.1116C>T | ||
| NM_000155.3:c.554C>T | NP_000146.2:p.Pro185Leu | |
| NM_001258332.1:c.227C>T | NP_001245261.1:p.Pro76Leu | |
| NM_000155.4:c.554C>T MANE Select | NP_000146.2:p.Pro185Leu | |
| NM_001258332.2:c.227C>T | NP_001245261.1:p.Pro76Leu |