Linked Data
ClinVar Variation Id:
39372
dbSNP Id:
rs2070075
ExAC:
9:34648418 C / T
gnomAD v2:
9-34648418-C-T
gnomAD v3:
9-34648421-C-T
gnomAD v4:
9-34648421-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648421C>T , CM000671.2:g.34648421C>T | GRCh38 |
| NC_000009.11:g.34648418C>T , CM000671.1:g.34648418C>T | GRCh37 |
| NC_000009.10:g.34638418C>T | NCBI36 |
| NG_009029.1:g.6784C>T | |
| NG_028966.1:g.1237C>T | |
| NG_009029.2:g.6833C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*240C>T | ENSP00000509954.1:n.*240C>T | |
| ENST00000378842.8:c.652C>T MANE Select | ENSP00000368119.4:p.Leu218= | |
| ENST00000378842.7:c.652C>T | ENSP00000368119.3:p.Leu218= | |
| ENST00000450095.6:c.325C>T | ENSP00000401956.2:p.Leu109= | |
| ENST00000472111.5:n.908C>T | ||
| ENST00000473506.6:c.*240C>T | ENSP00000432839.2:n.*240C>T | |
| ENST00000473529.5:n.811C>T | ||
| ENST00000487381.5:n.1037C>T | ||
| ENST00000489643.6:n.427C>T | ||
| ENST00000554085.5:c.*396C>T | ENSP00000450419.1:n.*396C>T | |
| ENST00000554550.5:c.*272C>T | ENSP00000451435.1:n.*272C>T | |
| ENST00000554638.5:n.1124C>T | ||
| ENST00000555020.5:n.808C>T | ||
| ENST00000555086.5:n.656C>T | ||
| ENST00000555214.5:n.473C>T | ||
| ENST00000556244.1:c.639C>T | ||
| ENST00000556278.1:c.397C>T | ENSP00000451792.1:p.Leu133= | |
| ENST00000556494.5:n.773C>T | ||
| ENST00000557706.5:n.1214C>T | ||
| NM_000155.3:c.652C>T | NP_000146.2:p.Leu218= | |
| NM_001258332.1:c.325C>T | NP_001245261.1:p.Leu109= | |
| NM_000155.4:c.652C>T MANE Select | NP_000146.2:p.Leu218= | |
| NM_001258332.2:c.325C>T | NP_001245261.1:p.Leu109= |