Linked Data
ClinVar Variation Id:
419090
dbSNP Id:
rs187225056
ExAC:
16:1545403 G / A
gnomAD v2:
16-1545403-G-A
gnomAD v3:
16-1495402-G-A
gnomAD v4:
16-1495402-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1495402G>A , CM000678.2:g.1495402G>A | GRCh38 |
| NC_000016.9:g.1545403G>A , CM000678.1:g.1545403G>A | GRCh37 |
| NC_000016.8:g.1485404G>A | NCBI36 |
| NG_050910.1:g.7059G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262319.11:c.392G>A MANE Select | ENSP00000262319.6:p.Gly131Asp | |
| ENST00000262319.10:c.392G>A | ENSP00000262319.6:p.Gly131Asp | |
| ENST00000497339.6:c.392G>A | ENSP00000456383.1:p.Gly131Asp | |
| NM_016111.3:c.392G>A | NP_057195.2:p.Gly131Asp | |
| XM_006720993.2:c.392G>A | XP_006721056.1:p.Gly131Asp | |
| XM_011522773.1:c.392G>A | XP_011521075.1:p.Gly131Asp | |
| XM_011522774.1:c.392G>A | XP_011521076.1:p.Gly131Asp | |
| XM_011522775.1:c.392G>A | XP_011521077.1:p.Gly131Asp | |
| XM_011522776.1:c.392G>A | XP_011521078.1:p.Gly131Asp | |
| XM_011522777.1:c.392G>A | XP_011521079.1:p.Gly131Asp | |
| XM_011522778.1:c.392G>A | XP_011521080.1:p.Gly131Asp | |
| XR_932982.1:n.678G>A | ||
| XR_932983.1:n.678G>A | ||
| NM_001351846.1:c.392G>A | NP_001338775.1:p.Gly131Asp | |
| XM_011522773.3:c.392G>A | XP_011521075.1:p.Gly131Asp | |
| XM_011522774.2:c.392G>A | XP_011521076.1:p.Gly131Asp | |
| XM_011522775.3:c.392G>A | XP_011521077.1:p.Gly131Asp | |
| XM_011522776.2:c.392G>A | XP_011521078.1:p.Gly131Asp | |
| XM_011522777.3:c.392G>A | XP_011521079.1:p.Gly131Asp | |
| XM_011522778.3:c.392G>A | XP_011521080.1:p.Gly131Asp | |
| XR_001752042.2:n.456G>A | ||
| XR_001752043.2:n.456G>A | ||
| XR_001752044.2:n.456G>A | ||
| XR_932982.3:n.456G>A | ||
| NM_016111.4:c.392G>A MANE Select | NP_057195.2:p.Gly131Asp | |
| NM_001351846.2:c.392G>A | NP_001338775.1:p.Gly131Asp |