Linked Data
dbSNP Id:
rs2052916437
gnomAD v3:
10-94298389-A-G
gnomAD v4:
10-94298389-A-G
MyVariant Identifiers:
chr10:g.96058146A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298389A>G , CM000672.2:g.94298389A>G | GRCh38 |
| NC_000010.10:g.96058146A>G , CM000672.1:g.96058146A>G | GRCh37 |
| NC_000010.9:g.96048136A>G | NCBI36 |
| NG_015799.1:g.309401A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4254A>G | ENSP00000360426.1:p.Glu1418= | |
| ENST00000685253.1:c.*1721A>G | ENSP00000509405.1:n.*1721A>G | |
| ENST00000685889.1:n.1913A>G | ||
| ENST00000686807.1:n.597A>G | ||
| ENST00000686954.1:c.*462A>G | ENSP00000508416.1:n.*462A>G | |
| ENST00000688810.1:c.4206A>G | ENSP00000509140.1:p.Glu1402= | |
| ENST00000689233.1:n.9386A>G | ||
| ENST00000690340.1:n.2851A>G | ||
| ENST00000692286.1:c.5046A>G | ENSP00000509490.1:p.Glu1682= | |
| ENST00000692396.1:c.5130A>G | ENSP00000508605.1:p.Glu1710= | |
| ENST00000371380.8:c.5178A>G MANE Select | ENSP00000360431.2:p.Glu1726= | |
| ENST00000371385.8:c.4152A>G | ENSP00000360438.4:p.Glu1384= | |
| ENST00000674738.1:c.3733A>G | ||
| ENST00000674827.1:c.3294A>G | ENSP00000502523.1:p.Glu1098= | |
| ENST00000675218.1:c.4254A>G | ENSP00000501910.1:p.Glu1418= | |
| ENST00000675487.1:c.*1111A>G | ENSP00000502340.1:n.*1111A>G | |
| ENST00000675718.1:c.4447A>G | ||
| ENST00000676102.1:c.4023A>G | ENSP00000502811.1:p.Glu1341= | |
| ENST00000260766.7:c.5178A>G | ENSP00000260766.3:p.Glu1726= | |
| ENST00000371375.1:c.4254A>G | ENSP00000360426.1:p.Glu1418= | |
| ENST00000371380.7:c.5178A>G | ENSP00000360431.2:p.Glu1726= | |
| ENST00000371385.7:c.4254A>G | ENSP00000360438.3:p.Glu1418= | |
| NM_001165979.2:c.4254A>G | NP_001159451.1:p.Glu1418= | |
| NM_001288989.1:c.5130A>G | NP_001275918.1:p.Glu1710= | |
| NM_016341.3:c.5178A>G | NP_057425.3:p.Glu1726= | |
| XM_006717885.2:c.5220A>G | XP_006717948.1:p.Glu1740= | |
| XM_006717886.2:c.5220A>G | XP_006717949.1:p.Glu1740= | |
| XM_006717888.2:c.5217A>G | XP_006717951.1:p.Glu1739= | |
| XM_006717889.2:c.5172A>G | XP_006717952.1:p.Glu1724= | |
| XM_006717890.1:c.4296A>G | XP_006717953.1:p.Glu1432= | |
| XM_011539849.1:c.5220A>G | XP_011538151.1:p.Glu1740= | |
| XM_011539850.1:c.4065A>G | XP_011538152.1:p.Glu1355= | |
| XM_006717885.4:c.5220A>G | XP_006717948.1:p.Glu1740= | |
| XM_006717888.4:c.5217A>G | XP_006717951.1:p.Glu1739= | |
| XM_006717889.4:c.5172A>G | XP_006717952.1:p.Glu1724= | |
| XM_006717890.3:c.4296A>G | XP_006717953.1:p.Glu1432= | |
| XM_011539849.3:c.5220A>G | XP_011538151.1:p.Glu1740= | |
| XM_011539850.3:c.4065A>G | XP_011538152.1:p.Glu1355= | |
| XM_017016310.2:c.5220A>G | XP_016871799.1:p.Glu1740= | |
| XM_017016311.2:c.5220A>G | XP_016871800.1:p.Glu1740= | |
| XM_017016312.2:c.4206A>G | XP_016871801.1:p.Glu1402= | |
| NM_001288989.2:c.5130A>G | NP_001275918.1:p.Glu1710= | |
| NM_016341.4:c.5178A>G MANE Select | NP_057425.3:p.Glu1726= |