Linked Data
ClinVar Variation Id:
403547
dbSNP Id:
rs12452890
ExAC:
17:76131070 G / A
gnomAD v2:
17-76131070-G-A
gnomAD v3:
17-78134989-G-A
gnomAD v4:
17-78134989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78134989G>A , CM000679.2:g.78134989G>A | GRCh38 |
| NC_000017.10:g.76131070G>A , CM000679.1:g.76131070G>A | GRCh37 |
| NC_000017.9:g.73642665G>A | NCBI36 |
| NG_007879.1:g.2419C>T , LRG_118:g.2419C>T | |
| NG_007881.1:g.9212G>A , LRG_119:g.9212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590184.2:n.810G>A | ||
| ENST00000698566.1:n.769G>A | ||
| ENST00000698567.1:n.769G>A | ||
| ENST00000698568.1:n.690G>A | ||
| ENST00000698569.1:n.564G>A | ||
| ENST00000698570.1:n.411G>A | ||
| ENST00000698571.1:n.169G>A | ||
| ENST00000698572.1:n.192G>A | ||
| ENST00000318430.10:c.1107G>A MANE Select | ENSP00000325561.4:p.Glu369= | |
| ENST00000318430.9:c.1107G>A | ENSP00000325561.4:p.Glu369= | |
| ENST00000589691.1:c.438G>A | ENSP00000467482.1:p.Glu146= | |
| ENST00000590184.1:n.41G>A | ||
| ENST00000591983.5:n.122G>A | ||
| ENST00000592399.5:n.122G>A | ||
| NM_152468.4:c.1107G>A , LRG_119t1:c.1107G>A | NP_689681.2:p.Glu369= | |
| XM_011524402.1:c.1119G>A | XP_011522704.1:p.Glu373= | |
| XM_011524403.1:c.1107G>A | XP_011522705.1:p.Glu369= | |
| XM_011524404.1:c.1119G>A | XP_011522706.1:p.Glu373= | |
| XM_011524405.1:c.1005G>A | XP_011522707.1:p.Glu335= | |
| XM_011524406.1:c.1126G>A | XP_011522708.1:p.Gly376Ser | |
| XM_011524407.1:c.450G>A | XP_011522709.1:p.Glu150= | |
| XM_011524408.1:c.450G>A | XP_011522710.1:p.Glu150= | |
| XM_011524409.1:c.1126G>A | XP_011522711.1:p.Gly376Ser | |
| XM_011524410.1:c.1126G>A | XP_011522712.1:p.Gly376Ser | |
| XM_011524411.1:c.1119G>A | XP_011522713.1:p.Glu373= | |
| XR_934395.1:n.3428G>A | ||
| XR_934397.1:n.3428G>A | ||
| XR_934398.1:n.3435G>A | ||
| XR_934400.1:n.3428G>A | ||
| XM_017024242.2:c.258G>A | XP_016879731.1:p.Glu86= | |
| XM_017024243.1:c.438G>A | XP_016879732.1:p.Glu146= | |
| XM_017024244.1:c.1114G>A | XP_016879733.1:p.Gly372Ser | |
| XM_024450617.1:c.1119G>A | XP_024306385.1:p.Glu373= | |
| XM_024450618.1:c.1119G>A | XP_024306386.1:p.Glu373= | |
| XM_024450619.1:c.1107G>A | XP_024306387.1:p.Glu369= | |
| XM_024450620.1:c.1119G>A | XP_024306388.1:p.Glu373= | |
| XM_024450621.1:c.1119G>A | XP_024306389.1:p.Glu373= | |
| XM_024450622.1:c.1119G>A | XP_024306390.1:p.Glu373= | |
| XM_024450623.1:c.1126G>A | XP_024306391.1:p.Gly376Ser | |
| XM_024450624.1:c.1119G>A | XP_024306392.1:p.Glu373= | |
| XM_024450625.1:c.1126G>A | XP_024306393.1:p.Gly376Ser | |
| XM_024450626.1:c.1126G>A | XP_024306394.1:p.Gly376Ser | |
| XM_024450627.1:c.1119G>A | XP_024306395.1:p.Glu373= | |
| XR_002957973.1:n.1200G>A | ||
| XR_002957974.1:n.1200G>A | ||
| XR_002957975.1:n.1188G>A | ||
| XR_002957976.1:n.1207G>A | ||
| XR_002957977.1:n.1195G>A | ||
| XR_002957978.1:n.1207G>A | ||
| XR_002957979.1:n.1200G>A | ||
| NM_152468.5:c.1107G>A MANE Select | NP_689681.2:p.Glu369= |