Linked Data
ClinVar Variation Id:
196631
dbSNP Id:
rs773368924
ExAC:
1:5923461 C / T
gnomAD v2:
1-5923461-C-T
gnomAD v3:
1-5863401-C-T
gnomAD v4:
1-5863401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863401C>T , CM000663.2:g.5863401C>T | GRCh38 |
| NC_000001.10:g.5923461C>T , CM000663.1:g.5923461C>T | GRCh37 |
| NC_000001.9:g.5846048C>T | NCBI36 |
| NG_011724.2:g.134071G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378156.9:c.4145G>A MANE Select | ENSP00000367398.4:p.Gly1382Glu | |
| ENST00000378156.8:c.4145G>A | ENSP00000367398.4:p.Gly1382Glu | |
| ENST00000378161.5:n.3780G>A | ||
| ENST00000378169.7:c.*3046G>A | ENSP00000367411.3:n.*3046G>A | |
| ENST00000460696.1:n.3377G>A | ||
| ENST00000478423.6:n.3877G>A | ||
| ENST00000489180.6:c.*1956G>A | ENSP00000423747.1:n.*1956G>A | |
| NM_001291593.1:c.2606G>A | NP_001278522.1:p.Gly869Glu | |
| NM_001291594.1:c.2609G>A | NP_001278523.1:p.Gly870Glu | |
| NM_015102.4:c.4145G>A | NP_055917.1:p.Gly1382Glu | |
| NR_111987.1:n.4960G>A | ||
| XM_006710563.2:c.4145G>A | XP_006710626.1:p.Gly1382Glu | |
| XM_006710565.2:c.4145G>A | XP_006710628.1:p.Gly1382Glu | |
| XM_011541213.1:c.4142G>A | XP_011539515.1:p.Gly1381Glu | |
| XM_011541214.1:c.4103G>A | XP_011539516.1:p.Gly1368Glu | |
| XM_011541215.1:c.4034G>A | XP_011539517.1:p.Gly1345Glu | |
| XM_011541216.1:c.4145G>A | XP_011539518.1:p.Gly1382Glu | |
| XM_011541217.1:c.4145G>A | XP_011539519.1:p.Gly1382Glu | |
| XM_011541218.1:c.4145G>A | XP_011539520.1:p.Gly1382Glu | |
| XM_011541219.1:c.4091G>A | XP_011539521.1:p.Gly1364Glu | |
| XM_006710563.3:c.4145G>A | XP_006710626.1:p.Gly1382Glu | |
| XM_011541216.2:c.4145G>A | XP_011539518.1:p.Gly1382Glu | |
| XM_011541217.2:c.4145G>A | XP_011539519.1:p.Gly1382Glu | |
| XM_011541218.2:c.4145G>A | XP_011539520.1:p.Gly1382Glu | |
| XM_017000996.1:c.4100G>A | XP_016856485.1:p.Gly1367Glu | |
| XM_017000997.1:c.4145G>A | XP_016856486.1:p.Gly1382Glu | |
| XM_017000999.1:c.3617G>A | XP_016856488.1:p.Gly1206Glu | |
| XM_017001000.2:c.3617G>A | XP_016856489.1:p.Gly1206Glu | |
| XM_017001001.1:c.3347G>A | XP_016856490.1:p.Gly1116Glu | |
| XM_017001003.1:c.2606G>A | XP_016856492.1:p.Gly869Glu | |
| XR_001737114.1:n.4011G>A | ||
| XR_001737115.1:n.3996G>A | ||
| NM_015102.5:c.4145G>A MANE Select | NP_055917.1:p.Gly1382Glu | |
| NM_001291593.2:c.2606G>A | NP_001278522.1:p.Gly869Glu | |
| NM_001291594.2:c.2609G>A | NP_001278523.1:p.Gly870Glu | |
| NR_111987.2:n.4912G>A |