Linked Data
ClinVar Variation Id:
288812
dbSNP Id:
rs45519033
ExAC:
2:220342004 G / A
gnomAD v2:
2-220342004-G-A
gnomAD v3:
2-219477282-G-A
gnomAD v4:
2-219477282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219477282G>A , CM000664.2:g.219477282G>A | GRCh38 |
| NC_000002.11:g.220342004G>A , CM000664.1:g.220342004G>A | GRCh37 |
| NC_000002.10:g.220050248G>A | NCBI36 |
| NG_051022.1:g.48068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312358.12:c.4566G>A MANE Select | ENSP00000311684.7:p.Glu1522= | |
| ENST00000312358.11:c.4566G>A | ENSP00000311684.7:p.Glu1522= | |
| ENST00000485813.5:n.3809G>A | ||
| NM_005876.4:c.4566G>A | NP_005867.3:p.Glu1522= | |
| XM_005246237.2:c.4284G>A | XP_005246294.1:p.Glu1428= | |
| XM_005246239.2:c.2190G>A | XP_005246296.1:p.Glu730= | |
| XM_005246240.2:c.2019G>A | XP_005246297.1:p.Glu673= | |
| XM_005246241.1:c.2019G>A | XP_005246298.1:p.Glu673= | |
| XM_005246242.3:c.2205G>A | XP_005246299.1:p.Glu735= | |
| XM_006712189.2:c.4254G>A | XP_006712252.1:p.Glu1418= | |
| XM_006712193.2:c.2019G>A | XP_006712256.1:p.Glu673= | |
| XM_011510479.1:c.4596G>A | XP_011508781.1:p.Glu1532= | |
| XM_011510480.1:c.4596G>A | XP_011508782.1:p.Glu1532= | |
| XM_011510481.1:c.4419G>A | XP_011508783.1:p.Glu1473= | |
| XM_011510482.1:c.4413G>A | XP_011508784.1:p.Glu1471= | |
| XM_011510483.1:c.4335G>A | XP_011508785.1:p.Glu1445= | |
| XM_011510484.1:c.4251G>A | XP_011508786.1:p.Glu1417= | |
| XM_011510485.1:c.4596G>A | XP_011508787.1:p.Glu1532= | |
| XM_011510486.1:c.4596G>A | XP_011508788.1:p.Glu1532= | |
| XM_005246242.4:c.2205G>A | XP_005246299.1:p.Glu735= | |
| XM_006712189.3:c.4254G>A | XP_006712252.1:p.Glu1418= | |
| XM_006712193.3:c.2019G>A | XP_006712256.1:p.Glu673= | |
| XM_011510479.2:c.4596G>A | XP_011508781.1:p.Glu1532= | |
| XM_011510483.2:c.4314G>A | XP_011508785.2:p.Glu1438= | |
| XM_017003157.1:c.4314G>A | XP_016858646.1:p.Glu1438= | |
| XM_017003158.2:c.2019G>A | XP_016858647.1:p.Glu673= | |
| XM_017003159.2:c.2190G>A | XP_016858648.1:p.Glu730= | |
| XM_017003160.1:c.-416G>A | XP_016858649.1:n.-416G>A | |
| XR_001738587.2:n.3858G>A | ||
| NM_005876.5:c.4566G>A MANE Select | NP_005867.3:p.Glu1522= |