Linked Data
ClinVar Variation Id:
1961011
ClinVar RCV Id:
RCV002706767
dbSNP Id:
rs1293522169
gnomAD v2:
16-5132577-G-A
gnomAD v3:
16-5082576-G-A
gnomAD v4:
16-5082576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5082576G>A , CM000678.2:g.5082576G>A | GRCh38 |
| NC_000016.9:g.5132577G>A , CM000678.1:g.5132577G>A | GRCh37 |
| NC_000016.8:g.5072578G>A | NCBI36 |
| NG_009202.1:g.15768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3226G>A | ||
| ENST00000682020.1:c.496G>A | ENSP00000508075.1:p.Val166Ile | |
| ENST00000682206.1:c.*185G>A | ENSP00000508285.1:n.*185G>A | |
| ENST00000682314.1:n.1138G>A | ||
| ENST00000682327.1:c.562G>A | ENSP00000507058.1:p.Val188Ile | |
| ENST00000682349.1:n.3232G>A | ||
| ENST00000682703.1:n.4058G>A | ||
| ENST00000682797.1:c.*182G>A | ENSP00000507582.1:n.*182G>A | |
| ENST00000682985.1:c.601G>A | ENSP00000507598.1:p.Val201Ile | |
| ENST00000683433.1:c.349G>A | ENSP00000507463.1:p.Val117Ile | |
| ENST00000683685.1:n.1964G>A | ||
| ENST00000683710.1:c.*1057G>A | ENSP00000506785.1:n.*1057G>A | |
| ENST00000683739.1:c.757G>A | ENSP00000507002.1:p.Val253Ile | |
| ENST00000683772.1:n.1134G>A | ||
| ENST00000684008.1:c.1028G>A | ENSP00000507962.1:n.1028G>A | |
| ENST00000684190.1:c.1051G>A | ENSP00000507554.1:p.Val351Ile | |
| ENST00000684335.1:c.979G>A | ENSP00000508112.1:p.Val327Ile | |
| ENST00000262374.10:c.1090G>A MANE Select | ENSP00000262374.5:p.Val364Ile | |
| ENST00000650085.1:n.1914G>A | ||
| ENST00000262374.9:c.1090G>A | ENSP00000262374.4:p.Val364Ile | |
| ENST00000544428.1:c.757G>A | ENSP00000440019.1:p.Val253Ile | |
| ENST00000588623.5:c.757G>A | ENSP00000468118.1:p.Val253Ile | |
| ENST00000591822.5:c.*991G>A | ENSP00000467865.1:n.*991G>A | |
| NM_019109.4:c.1090G>A | NP_061982.3:p.Val364Ile | |
| XM_011522565.1:c.757G>A | XP_011520867.1:p.Val253Ile | |
| NM_001330504.1:c.757G>A | NP_001317433.1:p.Val253Ile | |
| XM_017023457.2:c.1051G>A | XP_016878946.1:p.Val351Ile | |
| XM_017023458.1:c.757G>A | XP_016878947.1:p.Val253Ile | |
| XR_932882.3:n.1119G>A | ||
| NM_019109.5:c.1090G>A MANE Select | NP_061982.3:p.Val364Ile | |
| NM_001330504.2:c.757G>A | NP_001317433.1:p.Val253Ile |