Linked Data
ClinVar Variation Id:
1368501
ClinVar RCV Id:
RCV001874426
dbSNP Id:
rs2134884302
MyVariant Identifiers:
chr11:g.118963731G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093021G>A , CM000673.2:g.119093021G>A | GRCh38 |
| NC_000011.9:g.118963731G>A , CM000673.1:g.118963731G>A | GRCh37 |
| NC_000011.8:g.118468941G>A | NCBI36 |
| NG_008093.1:g.13145G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.747G>A | ENSP00000509288.1:p.Gln249= | |
| ENST00000691144.1:n.3127G>A | ||
| ENST00000691249.1:n.1736G>A | ||
| ENST00000442944.7:c.894G>A | ENSP00000392041.3:p.Gln298= | |
| ENST00000640813.1:c.*149G>A | ENSP00000491061.1:n.*149G>A | |
| ENST00000648026.1:c.806G>A | ENSP00000498044.1:n.806G>A | |
| ENST00000648374.1:c.861G>A | ENSP00000497255.1:p.Gln287= | |
| ENST00000650101.1:c.843G>A | ENSP00000496970.1:p.Gln281= | |
| ENST00000650307.1:n.1738G>A | ||
| ENST00000652429.1:c.912G>A MANE Select | ENSP00000498786.1:p.Gln304= | |
| ENST00000278715.7:c.912G>A | ENSP00000278715.3:p.Gln304= | |
| ENST00000392841.1:c.861G>A | ENSP00000376584.1:p.Gln287= | |
| ENST00000442944.6:c.861G>A | ENSP00000392041.2:p.Gln287= | |
| ENST00000537841.5:c.861G>A | ENSP00000444730.1:p.Gln287= | |
| ENST00000539045.1:n.411G>A | ||
| ENST00000542044.5:n.1357G>A | ||
| ENST00000542729.5:c.741G>A | ENSP00000443058.1:p.Gln247= | |
| ENST00000543090.5:c.819G>A | ENSP00000445429.1:p.Gln273= | |
| ENST00000543543.5:n.1387G>A | ||
| ENST00000544182.1:n.1361G>A | ||
| ENST00000544387.5:c.792G>A | ENSP00000438424.1:p.Gln264= | |
| ENST00000546226.5:n.1674G>A | ||
| NM_000190.3:c.912G>A | NP_000181.2:p.Gln304= | |
| NM_001024382.1:c.861G>A | NP_001019553.1:p.Gln287= | |
| NM_001258208.1:c.792G>A | NP_001245137.1:p.Gln264= | |
| NM_001258209.1:c.741G>A | NP_001245138.1:p.Gln247= | |
| XM_005271531.1:c.861G>A | XP_005271588.1:p.Gln287= | |
| XM_005271532.1:c.861G>A | XP_005271589.1:p.Gln287= | |
| XM_005271533.2:c.858G>A | XP_005271590.1:p.Gln286= | |
| XM_011542796.1:c.747G>A | XP_011541098.1:p.Gln249= | |
| NM_000190.4:c.912G>A MANE Select | NP_000181.2:p.Gln304= | |
| NM_001024382.2:c.861G>A | NP_001019553.1:p.Gln287= | |
| XM_005271533.3:c.858G>A | XP_005271590.1:p.Gln286= | |
| XM_017017629.1:c.861G>A | XP_016873118.1:p.Gln287= | |
| XM_024448460.1:c.738G>A | XP_024304228.1:p.Gln246= | |
| NM_001258208.2:c.792G>A | NP_001245137.1:p.Gln264= | |
| NM_001258209.2:c.741G>A | NP_001245138.1:p.Gln247= |