Linked Data
ClinVar Variation Id:
45478
dbSNP Id:
rs397517203
ExAC:
10:21185920 T / C
gnomAD v2:
10-21185920-T-C
gnomAD v3:
10-20896991-T-C
gnomAD v4:
10-20896991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20896991T>C , CM000672.2:g.20896991T>C | GRCh38 |
| NC_000010.10:g.21185920T>C , CM000672.1:g.21185920T>C | GRCh37 |
| NC_000010.9:g.21225926T>C | NCBI36 |
| NG_017092.1:g.282197A>G , LRG_411:g.282197A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.120A>G MANE Select | ENSP00000366326.4:p.Glu40= | |
| ENST00000674540.1:n.407A>G | ||
| ENST00000675114.1:n.565+64681A>G | ||
| ENST00000675700.1:n.380+64681A>G | ||
| ENST00000675702.1:n.636+64681A>G | ||
| ENST00000675747.1:n.2482A>G | ||
| ENST00000377119.5:n.130A>G | ||
| ENST00000377122.8:c.120A>G | ENSP00000366326.4:p.Glu40= | |
| ENST00000417816.2:c.357+64681A>G | ENSP00000393896.2:n.357+64681A>G | |
| ENST00000434381.1:c.72A>G | ENSP00000396512.1:p.Glu24= | |
| NM_001173484.1:c.357+64681A>G | NP_001166955.1:n.357+64681A>G | |
| NM_006393.2:c.120A>G , LRG_411t2:c.120A>G | NP_006384.1:p.Glu40= | |
| NM_213569.2:c.357+64681A>G , LRG_411t1:c.357+64681A>G | NP_998734.1:n.357+64681A>G | |
| XM_005252342.3:c.120A>G | XP_005252399.1:p.Glu40= | |
| XM_005252343.3:c.120A>G | XP_005252400.1:p.Glu40= | |
| XM_005252344.3:c.120A>G | XP_005252401.1:p.Glu40= | |
| XM_011519290.1:c.72A>G | XP_011517592.1:p.Glu24= | |
| XM_011519291.1:c.72A>G | XP_011517593.1:p.Glu24= | |
| XR_242691.3:n.232A>G | ||
| XM_005252342.5:c.120A>G | XP_005252399.1:p.Glu40= | |
| XM_005252343.5:c.120A>G | XP_005252400.1:p.Glu40= | |
| XM_005252344.5:c.120A>G | XP_005252401.1:p.Glu40= | |
| XM_011519291.2:c.72A>G | XP_011517593.1:p.Glu24= | |
| XM_017015468.1:c.72A>G | XP_016870957.1:p.Glu24= | |
| XR_001746995.2:n.1716A>G | ||
| XR_001746996.1:n.435A>G | ||
| XR_242691.5:n.1716A>G | ||
| NM_001173484.2:c.357+64681A>G | NP_001166955.1:n.357+64681A>G | |
| NM_001377322.1:c.357+64681A>G | NP_001364251.1:n.357+64681A>G | |
| NM_001377323.1:c.309+64681A>G | NP_001364252.1:n.309+64681A>G | |
| NM_001377324.1:c.300+64681A>G | NP_001364253.1:n.300+64681A>G | |
| NM_001377325.1:c.291+64681A>G | NP_001364254.1:n.291+64681A>G | |
| NM_001377326.1:c.249+64681A>G | NP_001364255.1:n.249+64681A>G | |
| NM_001377327.1:c.249+64681A>G | NP_001364256.1:n.249+64681A>G | |
| NM_001377328.1:c.249+64681A>G | NP_001364257.1:n.249+64681A>G | |
| NM_006393.3:c.120A>G MANE Select | NP_006384.1:p.Glu40= |