Linked Data
ClinVar Variation Id:
1558204
ClinVar RCV Id:
RCV002190603
dbSNP Id:
rs774594843
gnomAD v2:
11-118962837-C-T
gnomAD v3:
11-119092127-C-T
gnomAD v4:
11-119092127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092127C>T , CM000673.2:g.119092127C>T | GRCh38 |
| NC_000011.9:g.118962837C>T , CM000673.1:g.118962837C>T | GRCh37 |
| NC_000011.8:g.118468047C>T | NCBI36 |
| NG_008093.1:g.12251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.450C>T | ENSP00000509288.1:p.Ile150= | |
| ENST00000691144.1:n.2356C>T | ||
| ENST00000691249.1:n.1199C>T | ||
| ENST00000442944.7:c.597C>T | ENSP00000392041.3:p.Ile199= | |
| ENST00000536813.6:c.564C>T | ENSP00000438726.2:p.Ile188= | |
| ENST00000546302.6:c.537C>T | ENSP00000445599.1:p.Ile179= | |
| ENST00000640813.1:c.461+253C>T | ENSP00000491061.1:n.461+253C>T | |
| ENST00000648026.1:c.509C>T | ENSP00000498044.1:p.Ser170Phe | |
| ENST00000648374.1:c.564C>T | ENSP00000497255.1:p.Ile188= | |
| ENST00000648488.1:c.*88C>T | ENSP00000498079.1:n.*88C>T | |
| ENST00000649823.1:n.832C>T | ||
| ENST00000650101.1:c.546C>T | ENSP00000496970.1:p.Ile182= | |
| ENST00000650307.1:n.1441C>T | ||
| ENST00000652429.1:c.615C>T MANE Select | ENSP00000498786.1:p.Ile205= | |
| ENST00000278715.7:c.615C>T | ENSP00000278715.3:p.Ile205= | |
| ENST00000392841.1:c.564C>T | ENSP00000376584.1:p.Ile188= | |
| ENST00000442944.6:c.564C>T | ENSP00000392041.2:p.Ile188= | |
| ENST00000537841.5:c.564C>T | ENSP00000444730.1:p.Ile188= | |
| ENST00000542044.5:n.1060C>T | ||
| ENST00000542345.5:n.753C>T | ||
| ENST00000542729.5:c.564C>T | ENSP00000443058.1:p.Ile188= | |
| ENST00000543090.5:c.559-277C>T | ENSP00000445429.1:n.559-277C>T | |
| ENST00000543543.5:n.850C>T | ||
| ENST00000544182.1:n.590C>T | ||
| ENST00000544387.5:c.615C>T | ENSP00000438424.1:p.Ile205= | |
| ENST00000545621.5:c.*510C>T | ENSP00000444849.1:n.*510C>T | |
| ENST00000546226.5:n.903C>T | ||
| ENST00000546302.5:c.537C>T | ENSP00000445599.1:p.Ile179= | |
| NM_000190.3:c.615C>T | NP_000181.2:p.Ile205= | |
| NM_001024382.1:c.564C>T | NP_001019553.1:p.Ile188= | |
| NM_001258208.1:c.615C>T | NP_001245137.1:p.Ile205= | |
| NM_001258209.1:c.564C>T | NP_001245138.1:p.Ile188= | |
| XM_005271531.1:c.564C>T | XP_005271588.1:p.Ile188= | |
| XM_005271532.1:c.564C>T | XP_005271589.1:p.Ile188= | |
| XM_005271533.2:c.561C>T | XP_005271590.1:p.Ile187= | |
| XM_011542796.1:c.450C>T | XP_011541098.1:p.Ile150= | |
| NM_000190.4:c.615C>T MANE Select | NP_000181.2:p.Ile205= | |
| NM_001024382.2:c.564C>T | NP_001019553.1:p.Ile188= | |
| XM_005271533.3:c.561C>T | XP_005271590.1:p.Ile187= | |
| XM_017017629.1:c.564C>T | XP_016873118.1:p.Ile188= | |
| XM_024448460.1:c.561C>T | XP_024304228.1:p.Ile187= | |
| NM_001258208.2:c.615C>T | NP_001245137.1:p.Ile205= | |
| NM_001258209.2:c.564C>T | NP_001245138.1:p.Ile188= |