Linked Data
ClinVar Variation Id:
1473
ClinVar RCV Id:
RCV000001538
dbSNP Id:
rs118204114
ExAC:
11:118963217 C / T
gnomAD v2:
11-118963217-C-T
gnomAD v3:
11-119092507-C-T
gnomAD v4:
11-119092507-C-T
PubMed:
PMID:8262523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092507C>T , CM000673.2:g.119092507C>T | GRCh38 |
| NC_000011.9:g.118963217C>T , CM000673.1:g.118963217C>T | GRCh37 |
| NC_000011.8:g.118468427C>T | NCBI36 |
| NG_008093.1:g.12631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.590C>T | ENSP00000509288.1:p.Ala197Val | |
| ENST00000691144.1:n.2736C>T | ||
| ENST00000691249.1:n.1579C>T | ||
| ENST00000442944.7:c.737C>T | ENSP00000392041.3:p.Ala246Val | |
| ENST00000640813.1:c.565C>T | ENSP00000491061.1:p.Pro189Ser | |
| ENST00000648026.1:c.649C>T | ENSP00000498044.1:p.Pro217Ser | |
| ENST00000648374.1:c.704C>T | ENSP00000497255.1:p.Ala235Val | |
| ENST00000649823.1:n.1212C>T | ||
| ENST00000650101.1:c.686C>T | ENSP00000496970.1:p.Ala229Val | |
| ENST00000650307.1:n.1581C>T | ||
| ENST00000652429.1:c.755C>T MANE Select | ENSP00000498786.1:p.Ala252Val | |
| ENST00000278715.7:c.755C>T | ENSP00000278715.3:p.Ala252Val | |
| ENST00000392841.1:c.704C>T | ENSP00000376584.1:p.Ala235Val | |
| ENST00000442944.6:c.704C>T | ENSP00000392041.2:p.Ala235Val | |
| ENST00000537841.5:c.704C>T | ENSP00000444730.1:p.Ala235Val | |
| ENST00000542044.5:n.1200C>T | ||
| ENST00000542729.5:c.601-251C>T | ENSP00000443058.1:n.601-251C>T | |
| ENST00000543090.5:c.662C>T | ENSP00000445429.1:p.Ala221Val | |
| ENST00000543543.5:n.1230C>T | ||
| ENST00000544182.1:n.970C>T | ||
| ENST00000544387.5:c.652-251C>T | ENSP00000438424.1:n.652-251C>T | |
| ENST00000546226.5:n.1283C>T | ||
| NM_000190.3:c.755C>T | NP_000181.2:p.Ala252Val | |
| NM_001024382.1:c.704C>T | NP_001019553.1:p.Ala235Val | |
| NM_001258208.1:c.652-251C>T | NP_001245137.1:n.652-251C>T | |
| NM_001258209.1:c.601-251C>T | NP_001245138.1:n.601-251C>T | |
| XM_005271531.1:c.704C>T | XP_005271588.1:p.Ala235Val | |
| XM_005271532.1:c.704C>T | XP_005271589.1:p.Ala235Val | |
| XM_005271533.2:c.701C>T | XP_005271590.1:p.Ala234Val | |
| XM_011542796.1:c.590C>T | XP_011541098.1:p.Ala197Val | |
| NM_000190.4:c.755C>T MANE Select | NP_000181.2:p.Ala252Val | |
| NM_001024382.2:c.704C>T | NP_001019553.1:p.Ala235Val | |
| XM_005271533.3:c.701C>T | XP_005271590.1:p.Ala234Val | |
| XM_017017629.1:c.704C>T | XP_016873118.1:p.Ala235Val | |
| XM_024448460.1:c.598-251C>T | XP_024304228.1:n.598-251C>T | |
| NM_001258208.2:c.652-251C>T | NP_001245137.1:n.652-251C>T | |
| NM_001258209.2:c.601-251C>T | NP_001245138.1:n.601-251C>T |