Linked Data
ClinVar Variation Id:
416796
dbSNP Id:
rs144511254
ExAC:
11:61197633 A / G
gnomAD v2:
11-61197633-A-G
gnomAD v3:
11-61430161-A-G
gnomAD v4:
11-61430161-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61430161A>G , CM000673.2:g.61430161A>G | GRCh38 |
| NC_000011.9:g.61197633A>G , CM000673.1:g.61197633A>G | GRCh37 |
| NC_000011.8:g.60954209A>G | NCBI36 |
| NG_023393.1:g.5037A>G , LRG_519:g.5037A>G | |
| NG_051815.1:g.4832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.15A>G MANE Select | ENSP00000301761.3:p.Thr5= | |
| ENST00000301761.6:c.15A>G | ENSP00000301761.2:p.Thr5= | |
| ENST00000359614.9:c.15A>G | ENSP00000352630.5:p.Thr5= | |
| ENST00000534878.5:c.15A>G | ENSP00000471030.1:p.Thr5= | |
| ENST00000536250.1:c.15A>G | ENSP00000471120.1:p.Thr5= | |
| ENST00000536670.5:n.41A>G | ||
| ENST00000537782.5:c.15A>G | ENSP00000469951.1:p.Thr5= | |
| ENST00000538594.5:c.15A>G | ENSP00000440939.1:p.Thr5= | |
| ENST00000541135.5:c.15A>G | ENSP00000443130.1:p.Thr5= | |
| ENST00000542074.1:c.15A>G | ENSP00000469670.1:p.Thr5= | |
| ENST00000542794.5:c.15A>G | ENSP00000439983.1:p.Thr5= | |
| ENST00000543044.2:c.-22A>G | ENSP00000440219.1:n.-22A>G | |
| ENST00000543265.1:c.15A>G | ENSP00000443660.1:p.Thr5= | |
| ENST00000544025.5:n.131+811A>G | ||
| ENST00000544801.5:c.15A>G | ENSP00000442581.1:p.Thr5= | |
| ENST00000544880.1:n.19A>G | ||
| ENST00000623232.1:n.38A>G | ||
| NM_017841.2:c.15A>G , LRG_519t1:c.15A>G | NP_060311.1:p.Thr5= | |
| NM_017841.4:c.15A>G MANE Select | NP_060311.1:p.Thr5= |