Linked Data
ClinVar Variation Id:
860396
ClinVar RCV Id:
RCV001066685
dbSNP Id:
rs1350286134
gnomAD v2:
1-5924062-C-T
gnomAD v4:
1-5864002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5864002C>T , CM000663.2:g.5864002C>T | GRCh38 |
| NC_000001.10:g.5924062C>T , CM000663.1:g.5924062C>T | GRCh37 |
| NC_000001.9:g.5846649C>T | NCBI36 |
| NG_011724.2:g.133470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4028G>A MANE Select | ENSP00000367398.4:p.Gly1343Glu | |
| ENST00000378156.8:c.4028G>A | ENSP00000367398.4:p.Gly1343Glu | |
| ENST00000378161.5:n.3179G>A | ||
| ENST00000378169.7:c.*2929G>A | ENSP00000367411.3:n.*2929G>A | |
| ENST00000460696.1:n.2776G>A | ||
| ENST00000478423.6:n.3760G>A | ||
| ENST00000489180.6:c.*1839G>A | ENSP00000423747.1:n.*1839G>A | |
| NM_001291593.1:c.2489G>A | NP_001278522.1:p.Gly830Glu | |
| NM_001291594.1:c.2492G>A | NP_001278523.1:p.Gly831Glu | |
| NM_015102.4:c.4028G>A | NP_055917.1:p.Gly1343Glu | |
| NR_111987.1:n.4843G>A | ||
| XM_006710563.2:c.4028G>A | XP_006710626.1:p.Gly1343Glu | |
| XM_006710565.2:c.4028G>A | XP_006710628.1:p.Gly1343Glu | |
| XM_011541213.1:c.4025G>A | XP_011539515.1:p.Gly1342Glu | |
| XM_011541214.1:c.3986G>A | XP_011539516.1:p.Gly1329Glu | |
| XM_011541215.1:c.3917G>A | XP_011539517.1:p.Gly1306Glu | |
| XM_011541216.1:c.4028G>A | XP_011539518.1:p.Gly1343Glu | |
| XM_011541217.1:c.4028G>A | XP_011539519.1:p.Gly1343Glu | |
| XM_011541218.1:c.4028G>A | XP_011539520.1:p.Gly1343Glu | |
| XM_011541219.1:c.3974G>A | XP_011539521.1:p.Gly1325Glu | |
| XM_006710563.3:c.4028G>A | XP_006710626.1:p.Gly1343Glu | |
| XM_011541216.2:c.4028G>A | XP_011539518.1:p.Gly1343Glu | |
| XM_011541217.2:c.4028G>A | XP_011539519.1:p.Gly1343Glu | |
| XM_011541218.2:c.4028G>A | XP_011539520.1:p.Gly1343Glu | |
| XM_017000996.1:c.3983G>A | XP_016856485.1:p.Gly1328Glu | |
| XM_017000997.1:c.4028G>A | XP_016856486.1:p.Gly1343Glu | |
| XM_017000999.1:c.3500G>A | XP_016856488.1:p.Gly1167Glu | |
| XM_017001000.2:c.3500G>A | XP_016856489.1:p.Gly1167Glu | |
| XM_017001001.1:c.3230G>A | XP_016856490.1:p.Gly1077Glu | |
| XM_017001003.1:c.2489G>A | XP_016856492.1:p.Gly830Glu | |
| XR_001737114.1:n.3894G>A | ||
| XR_001737115.1:n.3879G>A | ||
| NM_015102.5:c.4028G>A MANE Select | NP_055917.1:p.Gly1343Glu | |
| NM_001291593.2:c.2489G>A | NP_001278522.1:p.Gly830Glu | |
| NM_001291594.2:c.2492G>A | NP_001278523.1:p.Gly831Glu | |
| NR_111987.2:n.4795G>A |