Linked Data
ClinVar Variation Id:
699345
dbSNP Id:
rs990170673
ExAC:
1:245027328 T / C
gnomAD v2:
1-245027328-T-C
gnomAD v3:
1-244864026-T-C
gnomAD v4:
1-244864026-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864026T>C , CM000663.2:g.244864026T>C | GRCh38 |
| NC_000001.10:g.245027328T>C , CM000663.1:g.245027328T>C | GRCh37 |
| NC_000001.9:g.243093951T>C | NCBI36 |
| NG_042184.1:g.5500A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.282A>G | ENSP00000283179.10:p.Glu94= | |
| ENST00000444376.7:c.282A>G | ENSP00000393151.2:p.Glu94= | |
| ENST00000476241.2:n.467A>G | ||
| ENST00000638475.1:c.66A>G | ENSP00000491305.1:p.Glu22= | |
| ENST00000638952.1:n.513A>G | ||
| ENST00000640218.2:c.282A>G MANE Select | ENSP00000491215.1:p.Glu94= | |
| ENST00000640306.1:c.282A>G | ENSP00000491685.1:p.Glu94= | |
| ENST00000649899.1:n.506A>G | ||
| ENST00000283179.13:c.282A>G | ENSP00000283179.9:p.Glu94= | |
| ENST00000444376.6:c.282A>G | ENSP00000393151.2:p.Glu94= | |
| ENST00000476241.1:n.466A>G | ||
| NM_004501.3:c.282A>G | NP_004492.2:p.Glu94= | |
| NM_031844.2:c.282A>G | NP_114032.2:p.Glu94= | |
| NM_031844.3:c.282A>G MANE Select | NP_114032.2:p.Glu94= |