Linked Data
dbSNP Id:
rs766338105
ExAC:
11:1775243 A / C
gnomAD v2:
11-1775243-A-C
gnomAD v4:
11-1754013-A-C
MyVariant Identifiers:
chr11:g.1775243A>C (hg19)
chr11:g.1775243_1775244delinsCC (hg19)
chr11:g.1754013A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1754013A>C , CM000673.2:g.1754013A>C | GRCh38 |
| NC_000011.9:g.1775243A>C , CM000673.1:g.1775243A>C | GRCh37 |
| NC_000011.8:g.1731819A>C | NCBI36 |
| NG_008655.1:g.14980T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.953T>G MANE Select | ENSP00000236671.2:p.Val318Gly | |
| ENST00000367196.4:c.848T>G | ENSP00000356164.4:p.Val283Gly | |
| ENST00000427721.3:c.378T>G | ||
| ENST00000429746.2:c.848T>G | ENSP00000402586.2:p.Val283Gly | |
| ENST00000433655.6:c.*119T>G | ENSP00000404902.1:n.*119T>G | |
| ENST00000438213.6:c.1070T>G | ENSP00000415036.2:p.Val357Gly | |
| ENST00000497544.3:n.569T>G | ||
| ENST00000636397.1:c.953T>G | ENSP00000489910.1:p.Val318Gly | |
| ENST00000636571.1:c.932T>G | ENSP00000490770.1:p.Val311Gly | |
| ENST00000636615.1:c.953T>G | ENSP00000490014.1:p.Val318Gly | |
| ENST00000636843.1:c.947T>G | ENSP00000490897.1:p.Val316Gly | |
| ENST00000637158.1:n.551T>G | ||
| ENST00000637381.2:n.3381T>G | ||
| ENST00000637387.1:c.953T>G | ENSP00000490598.1:p.Val318Gly | |
| ENST00000637815.2:c.935T>G | ENSP00000490344.1:p.Val312Gly | |
| ENST00000637915.1:c.953T>G | ENSP00000490471.1:p.Val318Gly | |
| ENST00000637937.1:n.261T>G | ||
| ENST00000678991.1:c.*814T>G | ENSP00000503019.1:n.*814T>G | |
| ENST00000236671.6:c.953T>G | ENSP00000236671.2:p.Val318Gly | |
| ENST00000427721.2:c.353T>G | ENSP00000415840.2:p.Val118Gly | |
| ENST00000429746.1:c.284T>G | ENSP00000402586.1:p.Val95Gly | |
| ENST00000433655.5:c.*119T>G | ENSP00000404902.1:n.*119T>G | |
| ENST00000497544.1:n.569T>G | ||
| NM_001909.4:c.953T>G | NP_001900.1:p.Val318Gly | |
| NM_001909.5:c.953T>G MANE Select | NP_001900.1:p.Val318Gly |