Linked Data
ClinVar Variation Id:
880030
ClinVar RCV Id:
RCV001108005
dbSNP Id:
rs758794172
ExAC:
11:118963230 C / A
gnomAD v2:
11-118963230-C-A
gnomAD v3:
11-119092520-C-A
gnomAD v4:
11-119092520-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092520C>A , CM000673.2:g.119092520C>A | GRCh38 |
| NC_000011.9:g.118963230C>A , CM000673.1:g.118963230C>A | GRCh37 |
| NC_000011.8:g.118468440C>A | NCBI36 |
| NG_008093.1:g.12644C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.603C>A | ENSP00000509288.1:p.His201Gln | |
| ENST00000691144.1:n.2749C>A | ||
| ENST00000691249.1:n.1592C>A | ||
| ENST00000442944.7:c.750C>A | ENSP00000392041.3:p.His250Gln | |
| ENST00000640813.1:c.*5C>A | ENSP00000491061.1:n.*5C>A | |
| ENST00000648026.1:c.662C>A | ENSP00000498044.1:n.662C>A | |
| ENST00000648374.1:c.717C>A | ENSP00000497255.1:p.His239Gln | |
| ENST00000649823.1:n.1225C>A | ||
| ENST00000650101.1:c.699C>A | ENSP00000496970.1:p.His233Gln | |
| ENST00000650307.1:n.1594C>A | ||
| ENST00000652429.1:c.768C>A MANE Select | ENSP00000498786.1:p.His256Gln | |
| ENST00000278715.7:c.768C>A | ENSP00000278715.3:p.His256Gln | |
| ENST00000392841.1:c.717C>A | ENSP00000376584.1:p.His239Gln | |
| ENST00000442944.6:c.717C>A | ENSP00000392041.2:p.His239Gln | |
| ENST00000537841.5:c.717C>A | ENSP00000444730.1:p.His239Gln | |
| ENST00000542044.5:n.1213C>A | ||
| ENST00000542729.5:c.601-238C>A | ENSP00000443058.1:n.601-238C>A | |
| ENST00000543090.5:c.675C>A | ENSP00000445429.1:p.His225Gln | |
| ENST00000543543.5:n.1243C>A | ||
| ENST00000544182.1:n.983C>A | ||
| ENST00000544387.5:c.652-238C>A | ENSP00000438424.1:n.652-238C>A | |
| ENST00000546226.5:n.1296C>A | ||
| NM_000190.3:c.768C>A | NP_000181.2:p.His256Gln | |
| NM_001024382.1:c.717C>A | NP_001019553.1:p.His239Gln | |
| NM_001258208.1:c.652-238C>A | NP_001245137.1:n.652-238C>A | |
| NM_001258209.1:c.601-238C>A | NP_001245138.1:n.601-238C>A | |
| XM_005271531.1:c.717C>A | XP_005271588.1:p.His239Gln | |
| XM_005271532.1:c.717C>A | XP_005271589.1:p.His239Gln | |
| XM_005271533.2:c.714C>A | XP_005271590.1:p.His238Gln | |
| XM_011542796.1:c.603C>A | XP_011541098.1:p.His201Gln | |
| NM_000190.4:c.768C>A MANE Select | NP_000181.2:p.His256Gln | |
| NM_001024382.2:c.717C>A | NP_001019553.1:p.His239Gln | |
| XM_005271533.3:c.714C>A | XP_005271590.1:p.His238Gln | |
| XM_017017629.1:c.717C>A | XP_016873118.1:p.His239Gln | |
| XM_024448460.1:c.598-238C>A | XP_024304228.1:n.598-238C>A | |
| NM_001258208.2:c.652-238C>A | NP_001245137.1:n.652-238C>A | |
| NM_001258209.2:c.601-238C>A | NP_001245138.1:n.601-238C>A |