Linked Data
ClinVar Variation Id:
208955
ClinVar RCV Id:
RCV000201327
dbSNP Id:
rs863223393
gnomAD v3:
3-63982277-G-A
gnomAD v4:
3-63982277-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.63982277G>A , CM000665.2:g.63982277G>A | GRCh38 |
| NC_000003.11:g.63967953G>A , CM000665.1:g.63967953G>A | GRCh37 |
| NC_000003.10:g.63942993G>A | NCBI36 |
| NG_008227.1:g.122721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000522345.2:c.844G>A | ENSP00000428067.2:p.Val282Met | |
| ENST00000674280.1:c.844G>A MANE Select | ENSP00000501377.1:p.Val282Met | |
| ENST00000295900.10:c.844G>A | ENSP00000295900.6:p.Val282Met | |
| ENST00000466529.1:n.91G>A | ||
| ENST00000474112.5:n.1397G>A | ||
| ENST00000484332.1:c.409G>A | ENSP00000428277.1:p.Val137Met | |
| ENST00000487717.5:c.844G>A | ENSP00000420234.1:p.Val282Met | |
| ENST00000488239.1:n.439G>A | ||
| ENST00000538065.5:c.844G>A | ENSP00000439585.1:p.Val282Met | |
| NM_000333.3:c.844G>A | NP_000324.1:p.Val282Met | |
| NM_001128149.2:c.409G>A | NP_001121621.2:p.Val137Met | |
| NM_001177387.1:c.844G>A | NP_001170858.1:p.Val282Met | |
| NM_000333.4:c.844G>A | NP_000324.1:p.Val282Met | |
| NM_001128149.3:c.409G>A | NP_001121621.2:p.Val137Met | |
| NM_001377405.1:c.844G>A MANE Select | NP_001364334.1:p.Val282Met | |
| NM_001377406.1:c.844G>A | NP_001364335.1:p.Val282Met |