Linked Data
ClinVar Variation Id:
1957595
ClinVar RCV Id:
RCV002690744
dbSNP Id:
rs1946189623
gnomAD v3:
11-119089744-A-G
gnomAD v4:
11-119089744-A-G
COSMIC:
COSM320844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119089744A>G , CM000673.2:g.119089744A>G | GRCh38 |
| NC_000011.9:g.118960454A>G , CM000673.1:g.118960454A>G | GRCh37 |
| NC_000011.8:g.118465664A>G | NCBI36 |
| NG_008093.1:g.9868A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.163A>G | ENSP00000509288.1:p.Ile55Val | |
| ENST00000686690.1:n.949A>G | ||
| ENST00000691144.1:n.2069A>G | ||
| ENST00000691249.1:n.912A>G | ||
| ENST00000442944.7:c.310A>G | ENSP00000392041.3:p.Ile104Val | |
| ENST00000534956.2:n.277A>G | ||
| ENST00000536813.6:c.277A>G | ENSP00000438726.2:p.Ile93Val | |
| ENST00000546302.6:c.267-246A>G | ENSP00000445599.1:n.267-246A>G | |
| ENST00000640813.1:c.277A>G | ENSP00000491061.1:p.Ile93Val | |
| ENST00000648026.1:c.322A>G | ENSP00000498044.1:p.Ile108Val | |
| ENST00000648374.1:c.277A>G | ENSP00000497255.1:p.Ile93Val | |
| ENST00000648488.1:c.277A>G | ENSP00000498079.1:p.Ile93Val | |
| ENST00000649823.1:n.545A>G | ||
| ENST00000649868.1:c.*36A>G | ENSP00000497548.1:n.*36A>G | |
| ENST00000650101.1:c.259A>G | ENSP00000496970.1:p.Ile87Val | |
| ENST00000650307.1:n.1154A>G | ||
| ENST00000652429.1:c.328A>G MANE Select | ENSP00000498786.1:p.Ile110Val | |
| ENST00000278715.7:c.328A>G | ENSP00000278715.3:p.Ile110Val | |
| ENST00000392841.1:c.277A>G | ENSP00000376584.1:p.Ile93Val | |
| ENST00000442944.6:c.277A>G | ENSP00000392041.2:p.Ile93Val | |
| ENST00000534956.1:n.244A>G | ||
| ENST00000535253.5:c.277A>G | ENSP00000442079.1:p.Ile93Val | |
| ENST00000535793.5:c.*223A>G | ENSP00000439904.1:n.*223A>G | |
| ENST00000536813.5:c.310A>G | ENSP00000438726.1:p.Ile104Val | |
| ENST00000537841.5:c.277A>G | ENSP00000444730.1:p.Ile93Val | |
| ENST00000539986.5:c.277A>G | ENSP00000440092.1:p.Ile93Val | |
| ENST00000542044.5:n.773A>G | ||
| ENST00000542345.5:n.466A>G | ||
| ENST00000542729.5:c.277A>G | ENSP00000443058.1:p.Ile93Val | |
| ENST00000542822.5:c.*264A>G | ENSP00000444817.1:n.*264A>G | |
| ENST00000543090.5:c.274A>G | ENSP00000445429.1:p.Ile92Val | |
| ENST00000543543.5:n.563A>G | ||
| ENST00000543821.5:n.474A>G | ||
| ENST00000544360.5:n.296A>G | ||
| ENST00000544387.5:c.328A>G | ENSP00000438424.1:p.Ile110Val | |
| ENST00000545621.5:c.*223A>G | ENSP00000444849.1:n.*223A>G | |
| ENST00000546226.5:n.387A>G | ||
| ENST00000546302.5:c.267-246A>G | ENSP00000445599.1:n.267-246A>G | |
| NM_000190.3:c.328A>G | NP_000181.2:p.Ile110Val | |
| NM_001024382.1:c.277A>G | NP_001019553.1:p.Ile93Val | |
| NM_001258208.1:c.328A>G | NP_001245137.1:p.Ile110Val | |
| NM_001258209.1:c.277A>G | NP_001245138.1:p.Ile93Val | |
| XM_005271531.1:c.277A>G | XP_005271588.1:p.Ile93Val | |
| XM_005271532.1:c.277A>G | XP_005271589.1:p.Ile93Val | |
| XM_005271533.2:c.274A>G | XP_005271590.1:p.Ile92Val | |
| XM_011542796.1:c.163A>G | XP_011541098.1:p.Ile55Val | |
| NM_000190.4:c.328A>G MANE Select | NP_000181.2:p.Ile110Val | |
| NM_001024382.2:c.277A>G | NP_001019553.1:p.Ile93Val | |
| XM_005271533.3:c.274A>G | XP_005271590.1:p.Ile92Val | |
| XM_017017629.1:c.277A>G | XP_016873118.1:p.Ile93Val | |
| XM_024448460.1:c.274A>G | XP_024304228.1:p.Ile92Val | |
| NM_001258208.2:c.328A>G | NP_001245137.1:p.Ile110Val | |
| NM_001258209.2:c.277A>G | NP_001245138.1:p.Ile93Val |