Linked Data
ClinVar Variation Id:
25334
dbSNP Id:
rs111033819
ExAC:
9:34650438 A / G
gnomAD v2:
9-34650438-A-G
gnomAD v3:
9-34650441-A-G
gnomAD v4:
9-34650441-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34650441A>G , CM000671.2:g.34650441A>G | GRCh38 |
| NC_000009.11:g.34650438A>G , CM000671.1:g.34650438A>G | GRCh37 |
| NC_000009.10:g.34640438A>G | NCBI36 |
| NG_009029.1:g.8804A>G | |
| NG_028966.1:g.3257A>G | |
| NG_009029.2:g.8853A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*720A>G | ENSP00000509954.1:n.*720A>G | |
| ENST00000378842.8:c.1132A>G MANE Select | ENSP00000368119.4:p.Ile378Val | |
| ENST00000378842.7:c.1132A>G | ENSP00000368119.3:p.Ile378Val | |
| ENST00000450095.6:c.805A>G | ENSP00000401956.2:p.Ile269Val | |
| ENST00000488412.2:n.716A>G | ||
| ENST00000554550.5:c.*752A>G | ENSP00000451435.1:n.*752A>G | |
| ENST00000554638.5:n.1604A>G | ||
| ENST00000555754.1:n.580A>G | ||
| ENST00000556278.1:c.432+1985A>G | ENSP00000451792.1:n.432+1985A>G | |
| ENST00000557706.5:n.1707A>G | ||
| NM_000155.3:c.1132A>G | NP_000146.2:p.Ile378Val | |
| NM_001258332.1:c.805A>G | NP_001245261.1:p.Ile269Val | |
| NM_000155.4:c.1132A>G MANE Select | NP_000146.2:p.Ile378Val | |
| NM_001258332.2:c.805A>G | NP_001245261.1:p.Ile269Val |