Linked Data
ClinVar Variation Id:
2822
ClinVar RCV Id:
RCV000002956
dbSNP Id:
rs120074151
gnomAD v2:
8-100523503-G-T
gnomAD v3:
8-99511275-G-T
gnomAD v4:
8-99511275-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99511275G>T , CM000670.2:g.99511275G>T | GRCh38 |
| NC_000008.10:g.100523503G>T , CM000670.1:g.100523503G>T | GRCh37 |
| NC_000008.9:g.100592679G>T | NCBI36 |
| NG_007098.2:g.503010G>T , LRG_351:g.503010G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355155.6:c.*246G>T | ENSP00000347281.2:n.*246G>T | |
| ENST00000682153.1:c.4471G>T | ENSP00000507923.1:p.Glu1491Ter | |
| ENST00000682358.1:n.4541G>T | ||
| ENST00000683334.1:c.*153G>T | ENSP00000507369.1:n.*153G>T | |
| ENST00000357162.7:c.4396G>T MANE Select | ENSP00000349685.2:p.Glu1466Ter | |
| ENST00000358544.7:c.4471G>T MANE Plus Clinical | ENSP00000351346.2:p.Glu1491Ter | |
| ENST00000357162.6:c.4396G>T | ENSP00000349685.2:p.Glu1466Ter | |
| ENST00000358544.6:c.4471G>T | ENSP00000351346.2:p.Glu1491Ter | |
| ENST00000496144.5:c.*254G>T | ENSP00000430900.1:n.*254G>T | |
| NM_017890.4:c.4471G>T , LRG_351t1:c.4471G>T | NP_060360.3:p.Glu1491Ter | |
| NM_152564.4:c.4396G>T , LRG_351t2:c.4396G>T | NP_689777.3:p.Glu1466Ter | |
| XM_005250800.2:c.4471G>T | XP_005250857.1:p.Glu1491Ter | |
| XM_005250801.3:c.4471G>T | XP_005250858.1:p.Glu1491Ter | |
| XM_006716510.2:c.4471G>T | XP_006716573.1:p.Glu1491Ter | |
| XM_011516848.1:c.4468G>T | XP_011515150.1:p.Glu1490Ter | |
| XM_011516849.1:c.4393G>T | XP_011515151.1:p.Glu1465Ter | |
| XM_011516850.1:c.4093G>T | XP_011515152.1:p.Glu1365Ter | |
| XM_011516851.1:c.1357G>T | XP_011515153.1:p.Glu453Ter | |
| XM_011516852.1:c.1357G>T | XP_011515154.1:p.Glu453Ter | |
| XM_011516853.1:c.4471G>T | XP_011515155.1:p.Glu1491Ter | |
| XM_011516854.1:c.250G>T | XP_011515156.1:p.Glu84Ter | |
| XR_928301.1:n.4574G>T | ||
| XR_928302.1:n.4574G>T | ||
| XR_928303.1:n.4574G>T | ||
| XR_928304.1:n.4641G>T | ||
| XM_005250800.3:c.4471G>T | XP_005250857.1:p.Glu1491Ter | |
| XM_005250801.5:c.4471G>T | XP_005250858.1:p.Glu1491Ter | |
| XM_006716510.3:c.4471G>T | XP_006716573.1:p.Glu1491Ter | |
| XM_011516848.2:c.4468G>T | XP_011515150.1:p.Glu1490Ter | |
| XM_011516849.2:c.4393G>T | XP_011515151.1:p.Glu1465Ter | |
| XM_011516850.2:c.4093G>T | XP_011515152.1:p.Glu1365Ter | |
| XM_011516851.2:c.1357G>T | XP_011515153.1:p.Glu453Ter | |
| XM_011516852.2:c.1357G>T | XP_011515154.1:p.Glu453Ter | |
| XM_011516853.2:c.4471G>T | XP_011515155.1:p.Glu1491Ter | |
| XM_011516854.2:c.250G>T | XP_011515156.1:p.Glu84Ter | |
| XM_017013109.1:c.4276G>T | XP_016868598.1:p.Glu1426Ter | |
| XM_017013111.1:c.1357G>T | XP_016868600.1:p.Glu453Ter | |
| XM_017013112.1:c.28G>T | XP_016868601.1:p.Glu10Ter | |
| XM_024447074.1:c.3256G>T | XP_024302842.1:p.Glu1086Ter | |
| XR_001745481.1:n.4541G>T | ||
| XR_001745482.2:n.4432G>T | ||
| XR_002956601.1:n.4638G>T | ||
| XR_002956602.1:n.4590G>T | ||
| XR_928302.2:n.4574G>T | ||
| NM_017890.5:c.4471G>T MANE Plus Clinical | NP_060360.3:p.Glu1491Ter | |
| NM_152564.5:c.4396G>T MANE Select | NP_689777.3:p.Glu1466Ter |