Linked Data
ClinVar Variation Id:
1494801
ClinVar RCV Id:
RCV001989603
dbSNP Id:
rs1167429745
gnomAD v3:
11-119093010-G-A
gnomAD v4:
11-119093010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093010G>A , CM000673.2:g.119093010G>A | GRCh38 |
| NC_000011.9:g.118963720G>A , CM000673.1:g.118963720G>A | GRCh37 |
| NC_000011.8:g.118468930G>A | NCBI36 |
| NG_008093.1:g.13134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.736G>A | ENSP00000509288.1:p.Val246Ile | |
| ENST00000691144.1:n.3116G>A | ||
| ENST00000691249.1:n.1725G>A | ||
| ENST00000442944.7:c.883G>A | ENSP00000392041.3:p.Val295Ile | |
| ENST00000640813.1:c.*138G>A | ENSP00000491061.1:n.*138G>A | |
| ENST00000648026.1:c.795G>A | ENSP00000498044.1:n.795G>A | |
| ENST00000648374.1:c.850G>A | ENSP00000497255.1:p.Val284Ile | |
| ENST00000650101.1:c.832G>A | ENSP00000496970.1:p.Val278Ile | |
| ENST00000650307.1:n.1727G>A | ||
| ENST00000652429.1:c.901G>A MANE Select | ENSP00000498786.1:p.Val301Ile | |
| ENST00000278715.7:c.901G>A | ENSP00000278715.3:p.Val301Ile | |
| ENST00000392841.1:c.850G>A | ENSP00000376584.1:p.Val284Ile | |
| ENST00000442944.6:c.850G>A | ENSP00000392041.2:p.Val284Ile | |
| ENST00000537841.5:c.850G>A | ENSP00000444730.1:p.Val284Ile | |
| ENST00000539045.1:n.400G>A | ||
| ENST00000542044.5:n.1346G>A | ||
| ENST00000542729.5:c.730G>A | ENSP00000443058.1:p.Val244Ile | |
| ENST00000543090.5:c.808G>A | ENSP00000445429.1:p.Val270Ile | |
| ENST00000543543.5:n.1376G>A | ||
| ENST00000544182.1:n.1350G>A | ||
| ENST00000544387.5:c.781G>A | ENSP00000438424.1:p.Val261Ile | |
| ENST00000546226.5:n.1663G>A | ||
| NM_000190.3:c.901G>A | NP_000181.2:p.Val301Ile | |
| NM_001024382.1:c.850G>A | NP_001019553.1:p.Val284Ile | |
| NM_001258208.1:c.781G>A | NP_001245137.1:p.Val261Ile | |
| NM_001258209.1:c.730G>A | NP_001245138.1:p.Val244Ile | |
| XM_005271531.1:c.850G>A | XP_005271588.1:p.Val284Ile | |
| XM_005271532.1:c.850G>A | XP_005271589.1:p.Val284Ile | |
| XM_005271533.2:c.847G>A | XP_005271590.1:p.Val283Ile | |
| XM_011542796.1:c.736G>A | XP_011541098.1:p.Val246Ile | |
| NM_000190.4:c.901G>A MANE Select | NP_000181.2:p.Val301Ile | |
| NM_001024382.2:c.850G>A | NP_001019553.1:p.Val284Ile | |
| XM_005271533.3:c.847G>A | XP_005271590.1:p.Val283Ile | |
| XM_017017629.1:c.850G>A | XP_016873118.1:p.Val284Ile | |
| XM_024448460.1:c.727G>A | XP_024304228.1:p.Val243Ile | |
| NM_001258208.2:c.781G>A | NP_001245137.1:p.Val261Ile | |
| NM_001258209.2:c.730G>A | NP_001245138.1:p.Val244Ile |