Linked Data
ClinVar Variation Id:
305568
dbSNP Id:
rs148826890
ExAC:
11:66468454 C / T
gnomAD v2:
11-66468454-C-T
gnomAD v3:
11-66700983-C-T
gnomAD v4:
11-66700983-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66700983C>T , CM000673.2:g.66700983C>T | GRCh38 |
| NC_000011.9:g.66468454C>T , CM000673.1:g.66468454C>T | GRCh37 |
| NC_000011.8:g.66225030C>T | NCBI36 |
| NG_016150.1:g.25417G>A | |
| NG_016150.2:g.33379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309996.7:c.3116G>A | ENSP00000311489.2:p.Arg1039Gln | |
| ENST00000611817.5:c.3116G>A | ENSP00000480692.2:p.Arg1039Gln | |
| ENST00000617502.5:c.3137G>A | ENSP00000482000.2:p.Arg1046Gln | |
| ENST00000647510.2:c.3116G>A | ENSP00000508362.1:p.Arg1039Gln | |
| ENST00000533211.6:c.3116G>A MANE Select | ENSP00000432568.1:p.Arg1039Gln | |
| ENST00000647510.1:n.3643G>A | ||
| ENST00000309996.6:c.3116G>A | ENSP00000311489.2:p.Arg1039Gln | |
| ENST00000529997.5:c.3116G>A | ENSP00000433593.1:p.Arg1039Gln | |
| ENST00000533211.5:c.3116G>A | ENSP00000432568.1:p.Arg1039Gln | |
| ENST00000611817.4:c.1854+4439G>A | ENSP00000480692.1:n.1854+4439G>A | |
| ENST00000617502.4:c.1845+4448G>A | ENSP00000482000.1:n.1845+4448G>A | |
| NM_006946.2:c.3116G>A | NP_008877.1:p.Arg1039Gln | |
| XM_005274192.3:c.3116G>A | XP_005274249.1:p.Arg1039Gln | |
| XM_005274193.3:c.3116G>A | XP_005274250.1:p.Arg1039Gln | |
| XM_006718669.2:c.3137G>A | XP_006718732.1:p.Arg1046Gln | |
| XM_006718671.2:c.3116G>A | XP_006718734.1:p.Arg1039Gln | |
| XM_011545216.1:c.3137G>A | XP_011543518.1:p.Arg1046Gln | |
| XM_011545217.1:c.3137G>A | XP_011543519.1:p.Arg1046Gln | |
| NM_006946.3:c.3116G>A | NP_008877.1:p.Arg1039Gln | |
| XM_005274192.4:c.3116G>A | XP_005274249.1:p.Arg1039Gln | |
| XM_006718669.3:c.3137G>A | XP_006718732.1:p.Arg1046Gln | |
| XM_006718671.4:c.3116G>A | XP_006718734.1:p.Arg1039Gln | |
| XM_011545216.3:c.3137G>A | XP_011543518.1:p.Arg1046Gln | |
| XM_011545217.2:c.3137G>A | XP_011543519.1:p.Arg1046Gln | |
| XM_017018174.1:c.3116G>A | XP_016873663.1:p.Arg1039Gln | |
| XM_017018175.2:c.3116G>A | XP_016873664.1:p.Arg1039Gln | |
| XM_017018176.1:c.3116G>A | XP_016873665.1:p.Arg1039Gln | |
| XM_017018177.2:c.3116G>A | XP_016873666.1:p.Arg1039Gln | |
| XM_017018178.1:c.3116G>A | XP_016873667.1:p.Arg1039Gln | |
| NM_006946.4:c.3116G>A MANE Select | NP_008877.2:p.Arg1039Gln |