Linked Data
ClinVar Variation Id:
56664
dbSNP Id:
rs386834086
ExAC:
8:100523443 C / T
gnomAD v2:
8-100523443-C-T
gnomAD v3:
8-99511215-C-T
gnomAD v4:
8-99511215-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99511215C>T , CM000670.2:g.99511215C>T | GRCh38 |
| NC_000008.10:g.100523443C>T , CM000670.1:g.100523443C>T | GRCh37 |
| NC_000008.9:g.100592619C>T | NCBI36 |
| NG_007098.2:g.502950C>T , LRG_351:g.502950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355155.6:c.*186C>T | ENSP00000347281.2:n.*186C>T | |
| ENST00000682153.1:c.4411C>T | ENSP00000507923.1:p.Arg1471Ter | |
| ENST00000682358.1:n.4481C>T | ||
| ENST00000683334.1:c.*93C>T | ENSP00000507369.1:n.*93C>T | |
| ENST00000357162.7:c.4336C>T MANE Select | ENSP00000349685.2:p.Arg1446Ter | |
| ENST00000358544.7:c.4411C>T MANE Plus Clinical | ENSP00000351346.2:p.Arg1471Ter | |
| ENST00000357162.6:c.4336C>T | ENSP00000349685.2:p.Arg1446Ter | |
| ENST00000358544.6:c.4411C>T | ENSP00000351346.2:p.Arg1471Ter | |
| ENST00000496144.5:c.*194C>T | ENSP00000430900.1:n.*194C>T | |
| NM_017890.4:c.4411C>T , LRG_351t1:c.4411C>T | NP_060360.3:p.Arg1471Ter | |
| NM_152564.4:c.4336C>T , LRG_351t2:c.4336C>T | NP_689777.3:p.Arg1446Ter | |
| XM_005250800.2:c.4411C>T | XP_005250857.1:p.Arg1471Ter | |
| XM_005250801.3:c.4411C>T | XP_005250858.1:p.Arg1471Ter | |
| XM_006716510.2:c.4411C>T | XP_006716573.1:p.Arg1471Ter | |
| XM_011516848.1:c.4408C>T | XP_011515150.1:p.Arg1470Ter | |
| XM_011516849.1:c.4333C>T | XP_011515151.1:p.Arg1445Ter | |
| XM_011516850.1:c.4033C>T | XP_011515152.1:p.Arg1345Ter | |
| XM_011516851.1:c.1297C>T | XP_011515153.1:p.Arg433Ter | |
| XM_011516852.1:c.1297C>T | XP_011515154.1:p.Arg433Ter | |
| XM_011516853.1:c.4411C>T | XP_011515155.1:p.Arg1471Ter | |
| XM_011516854.1:c.190C>T | XP_011515156.1:p.Arg64Ter | |
| XM_011516857.1:c.*93C>T | XP_011515159.1:n.*93C>T | |
| XR_928301.1:n.4514C>T | ||
| XR_928302.1:n.4514C>T | ||
| XR_928303.1:n.4514C>T | ||
| XR_928304.1:n.4581C>T | ||
| XM_005250800.3:c.4411C>T | XP_005250857.1:p.Arg1471Ter | |
| XM_005250801.5:c.4411C>T | XP_005250858.1:p.Arg1471Ter | |
| XM_006716510.3:c.4411C>T | XP_006716573.1:p.Arg1471Ter | |
| XM_011516848.2:c.4408C>T | XP_011515150.1:p.Arg1470Ter | |
| XM_011516849.2:c.4333C>T | XP_011515151.1:p.Arg1445Ter | |
| XM_011516850.2:c.4033C>T | XP_011515152.1:p.Arg1345Ter | |
| XM_011516851.2:c.1297C>T | XP_011515153.1:p.Arg433Ter | |
| XM_011516852.2:c.1297C>T | XP_011515154.1:p.Arg433Ter | |
| XM_011516853.2:c.4411C>T | XP_011515155.1:p.Arg1471Ter | |
| XM_011516854.2:c.190C>T | XP_011515156.1:p.Arg64Ter | |
| XM_017013109.1:c.4216C>T | XP_016868598.1:p.Arg1406Ter | |
| XM_017013111.1:c.1297C>T | XP_016868600.1:p.Arg433Ter | |
| XM_017013112.1:c.-33C>T | XP_016868601.1:n.-33C>T | |
| XM_024447074.1:c.3196C>T | XP_024302842.1:p.Arg1066Ter | |
| XR_001745481.1:n.4481C>T | ||
| XR_001745482.2:n.4372C>T | ||
| XR_002956601.1:n.4578C>T | ||
| XR_002956602.1:n.4530C>T | ||
| XR_928302.2:n.4514C>T | ||
| NM_017890.5:c.4411C>T MANE Plus Clinical | NP_060360.3:p.Arg1471Ter | |
| NM_152564.5:c.4336C>T MANE Select | NP_689777.3:p.Arg1446Ter |