Linked Data
ClinVar Variation Id:
517516
dbSNP Id:
rs4253528
ExAC:
10:81373846 C / T
gnomAD v2:
10-81373846-C-T
gnomAD v3:
10-79614090-C-T
gnomAD v4:
10-79614090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79614090C>T , CM000672.2:g.79614090C>T | GRCh38 |
| NC_000010.10:g.81373846C>T , CM000672.1:g.81373846C>T | GRCh37 |
| NG_021189.1:g.8152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398636.8:c.724C>T MANE Select | ENSP00000381633.3:p.Arg242Ter | |
| ENST00000398636.7:c.724C>T | ENSP00000381633.3:p.Arg242Ter | |
| ENST00000419470.6:c.769C>T | ENSP00000397082.2:p.Arg257Ter | |
| ENST00000428376.6:c.724C>T | ENSP00000411102.2:p.Arg242Ter | |
| NM_001093770.2:c.769C>T | NP_001087239.2:p.Arg257Ter | |
| NM_001164644.1:c.724C>T | NP_001158116.1:p.Arg242Ter | |
| NM_001164645.1:c.622C>T | NP_001158117.1:p.Arg208Ter | |
| NM_001164646.1:c.577C>T | NP_001158118.1:p.Arg193Ter | |
| NM_001164647.1:c.724C>T | NP_001158119.1:p.Arg242Ter | |
| NM_005411.4:c.724C>T | NP_005402.3:p.Arg242Ter | |
| XM_005270062.3:c.724C>T | XP_005270119.1:p.Arg242Ter | |
| XM_006717953.2:c.769C>T | XP_006718016.1:p.Arg257Ter | |
| XM_005270062.5:c.724C>T | XP_005270119.1:p.Arg242Ter | |
| NM_001093770.3:c.769C>T | NP_001087239.2:p.Arg257Ter | |
| NM_001164644.2:c.724C>T | NP_001158116.1:p.Arg242Ter | |
| NM_001164645.2:c.622C>T | NP_001158117.1:p.Arg208Ter | |
| NM_001164646.2:c.577C>T | NP_001158118.1:p.Arg193Ter | |
| NM_005411.5:c.724C>T MANE Select | NP_005402.3:p.Arg242Ter |