Linked Data
dbSNP Id:
rs745506215
ExAC:
11:32456697 C / A
gnomAD v2:
11-32456697-C-A
gnomAD v4:
11-32435151-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435151C>A , CM000673.2:g.32435151C>A | GRCh38 |
| NC_000011.9:g.32456697C>A , CM000673.1:g.32456697C>A | GRCh37 |
| NC_000011.8:g.32413273C>A | NCBI36 |
| NG_009272.1:g.5391G>T , LRG_525:g.5391G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.210G>T | ENSP00000331327.5:p.Glu70Asp | |
| ENST00000379077.9:c.210G>T | ENSP00000368368.5:p.Glu70Asp | |
| ENST00000448076.9:c.210G>T | ENSP00000413452.5:p.Glu70Asp | |
| ENST00000452863.10:c.210G>T MANE Select | ENSP00000415516.5:p.Glu70Asp | |
| ENST00000639563.3:c.210G>T | ENSP00000492269.3:p.Glu70Asp | |
| ENST00000332351.7:c.195G>T | ENSP00000331327.3:p.Glu65Asp | |
| ENST00000379077.7:c.195G>T | ENSP00000368368.3:p.Glu65Asp | |
| ENST00000448076.7:c.195G>T | ENSP00000413452.3:p.Glu65Asp | |
| ENST00000452863.7:c.195G>T | ENSP00000415516.3:p.Glu65Asp | |
| NM_000378.4:c.195G>T | NP_000369.3:p.Glu65Asp | |
| NM_024424.3:c.195G>T | NP_077742.2:p.Glu65Asp | |
| NM_024426.4:c.195G>T | NP_077744.3:p.Glu65Asp | |
| NM_000378.5:c.210G>T | NP_000369.4:p.Glu70Asp | |
| NM_024424.4:c.210G>T | NP_077742.3:p.Glu70Asp | |
| NM_024426.5:c.210G>T | NP_077744.4:p.Glu70Asp | |
| NR_160306.1:n.389G>T | ||
| NM_000378.6:c.210G>T | NP_000369.4:p.Glu70Asp | |
| NM_024424.5:c.210G>T | NP_077742.3:p.Glu70Asp | |
| NM_024426.6:c.210G>T MANE Select | NP_077744.4:p.Glu70Asp |