Linked Data
ClinVar Variation Id:
126381
dbSNP Id:
rs515726136
gnomAD v2:
3-45868951-C-A
gnomAD v4:
3-45827459-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45827459C>A , CM000665.2:g.45827459C>A | GRCh38 |
| NC_000003.11:g.45868951C>A , CM000665.1:g.45868951C>A | GRCh37 |
| NC_000003.10:g.45843955C>A | NCBI36 |
| NG_033917.1:g.93266G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490463.6:c.*261G>T | ENSP00000506299.2:n.*261G>T | |
| ENST00000699186.1:n.767G>T | ||
| ENST00000699187.1:c.*26G>T | ENSP00000514188.1:n.*26G>T | |
| ENST00000684620.1:c.727G>T | ENSP00000506925.1:p.Glu243Ter | |
| ENST00000296135.11:c.778G>T MANE Select | ENSP00000296135.6:p.Glu260Ter | |
| ENST00000418700.6:c.*759G>T | ENSP00000416427.2:n.*759G>T | |
| ENST00000296135.10:c.778G>T | ENSP00000296135.6:p.Glu260Ter | |
| ENST00000411866.5:c.*444G>T | ENSP00000397589.1:n.*444G>T | |
| ENST00000418700.5:c.*793G>T | ENSP00000416427.1:n.*793G>T | |
| ENST00000440576.2:c.584G>T | ||
| ENST00000448111.5:c.*667+980G>T | ENSP00000400177.1:n.*667+980G>T | |
| ENST00000469874.5:n.447G>T | ||
| ENST00000478551.1:n.136G>T | ||
| ENST00000536047.5:c.727G>T | ENSP00000439522.1:p.Glu243Ter | |
| ENST00000539217.5:c.765+980G>T | ENSP00000441784.1:n.765+980G>T | |
| NM_001276378.1:c.727G>T | NP_001263307.1:p.Glu243Ter | |
| NM_001276379.1:c.765+980G>T | NP_001263308.1:n.765+980G>T | |
| NM_020347.3:c.778G>T | NP_065080.1:p.Glu260Ter | |
| NR_075080.1:n.820G>T | ||
| XM_006713207.2:c.777+980G>T | XP_006713270.2:n.777+980G>T | |
| XM_011533838.1:c.727G>T | XP_011532140.1:p.Glu243Ter | |
| XM_011533839.1:c.808G>T | XP_011532141.1:p.Glu270Ter | |
| XM_006713207.3:c.777+980G>T | XP_006713270.2:n.777+980G>T | |
| XM_011533838.2:c.727G>T | XP_011532140.1:p.Glu243Ter | |
| XM_017006645.2:c.805G>T | XP_016862134.1:p.Glu269Ter | |
| XR_001740681.1:n.1780C>A | ||
| NM_020347.4:c.778G>T MANE Select | NP_065080.1:p.Glu260Ter | |
| NR_075080.2:n.781G>T | ||
| NM_001276378.2:c.727G>T | NP_001263307.1:p.Glu243Ter | |
| NM_001276379.2:c.765+980G>T | NP_001263308.1:n.765+980G>T | |
| NM_001386451.1:c.727G>T | NP_001373380.1:p.Glu243Ter | |
| NM_001386452.1:c.777+980G>T | NP_001373381.1:n.777+980G>T |