Linked Data
ClinVar Variation Id:
303833
dbSNP Id:
rs557342549
ExAC:
11:1774856 G / A
gnomAD v2:
11-1774856-G-A
gnomAD v3:
11-1753626-G-A
gnomAD v4:
11-1753626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753626G>A , CM000673.2:g.1753626G>A | GRCh38 |
| NC_000011.9:g.1774856G>A , CM000673.1:g.1774856G>A | GRCh37 |
| NC_000011.8:g.1731432G>A | NCBI36 |
| NG_008655.1:g.15367C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.1116C>T MANE Select | ENSP00000236671.2:p.Gly372= | |
| ENST00000367196.4:c.1011C>T | ENSP00000356164.4:p.Gly337= | |
| ENST00000427721.3:c.541C>T | ||
| ENST00000429746.2:c.1011C>T | ENSP00000402586.2:p.Gly337= | |
| ENST00000433655.6:c.*282C>T | ENSP00000404902.1:n.*282C>T | |
| ENST00000438213.6:c.1233C>T | ENSP00000415036.2:p.Gly411= | |
| ENST00000636397.1:c.1071+177C>T | ENSP00000489910.1:n.1071+177C>T | |
| ENST00000636571.1:c.1095C>T | ENSP00000490770.1:p.Gly365= | |
| ENST00000636579.1:c.72+177C>T | ENSP00000490489.1:n.72+177C>T | |
| ENST00000636615.1:c.1071+177C>T | ENSP00000490014.1:n.1071+177C>T | |
| ENST00000636843.1:c.1110C>T | ENSP00000490897.1:p.Gly370= | |
| ENST00000637158.1:n.714C>T | ||
| ENST00000637381.2:n.3544C>T | ||
| ENST00000637387.1:c.1095C>T | ENSP00000490598.1:p.Gly365= | |
| ENST00000637815.2:c.1098C>T | ENSP00000490344.1:p.Gly366= | |
| ENST00000637915.1:c.1107C>T | ENSP00000490471.1:p.Gly369= | |
| ENST00000637937.1:n.424C>T | ||
| ENST00000678991.1:c.*977C>T | ENSP00000503019.1:n.*977C>T | |
| ENST00000236671.6:c.1116C>T | ENSP00000236671.2:p.Gly372= | |
| ENST00000427721.2:c.471+177C>T | ENSP00000415840.2:n.471+177C>T | |
| ENST00000429746.1:c.447C>T | ENSP00000402586.1:p.Gly149= | |
| ENST00000433655.5:c.*282C>T | ENSP00000404902.1:n.*282C>T | |
| NM_001909.4:c.1116C>T | NP_001900.1:p.Gly372= | |
| NM_001909.5:c.1116C>T MANE Select | NP_001900.1:p.Gly372= |