Linked Data
ClinVar Variation Id:
2820
dbSNP Id:
rs120074150
ExAC:
8:100733201 C / T
gnomAD v2:
8-100733201-C-T
gnomAD v3:
8-99720973-C-T
gnomAD v4:
8-99720973-C-T
PubMed:
PMID:12730828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99720973C>T , CM000670.2:g.99720973C>T | GRCh38 |
| NC_000008.10:g.100733201C>T , CM000670.1:g.100733201C>T | GRCh37 |
| NC_000008.9:g.100802377C>T | NCBI36 |
| NG_007098.2:g.712708C>T , LRG_351:g.712708C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.7051C>T | ENSP00000507923.1:p.Arg2351Ter | |
| ENST00000682358.1:n.7121C>T | ||
| ENST00000683334.1:c.*2733C>T | ENSP00000507369.1:n.*2733C>T | |
| ENST00000357162.7:c.6976C>T MANE Select | ENSP00000349685.2:p.Arg2326Ter | |
| ENST00000358544.7:c.7051C>T MANE Plus Clinical | ENSP00000351346.2:p.Arg2351Ter | |
| ENST00000357162.6:c.6976C>T | ENSP00000349685.2:p.Arg2326Ter | |
| ENST00000358544.6:c.7051C>T | ENSP00000351346.2:p.Arg2351Ter | |
| ENST00000518569.1:n.106C>T | ||
| NM_017890.4:c.7051C>T , LRG_351t1:c.7051C>T | NP_060360.3:p.Arg2351Ter | |
| NM_152564.4:c.6976C>T , LRG_351t2:c.6976C>T | NP_689777.3:p.Arg2326Ter | |
| XM_005250800.2:c.7051C>T | XP_005250857.1:p.Arg2351Ter | |
| XM_005250801.3:c.7051C>T | XP_005250858.1:p.Arg2351Ter | |
| XM_011516848.1:c.7048C>T | XP_011515150.1:p.Arg2350Ter | |
| XM_011516849.1:c.6973C>T | XP_011515151.1:p.Arg2325Ter | |
| XM_011516850.1:c.6673C>T | XP_011515152.1:p.Arg2225Ter | |
| XM_011516851.1:c.3937C>T | XP_011515153.1:p.Arg1313Ter | |
| XM_011516852.1:c.3937C>T | XP_011515154.1:p.Arg1313Ter | |
| XM_011516853.1:c.7051C>T | XP_011515155.1:p.Arg2351Ter | |
| XM_011516854.1:c.2830C>T | XP_011515156.1:p.Arg944Ter | |
| XR_928446.1:n.2066-1760G>A | ||
| XM_005250800.3:c.7051C>T | XP_005250857.1:p.Arg2351Ter | |
| XM_005250801.5:c.7051C>T | XP_005250858.1:p.Arg2351Ter | |
| XM_011516848.2:c.7048C>T | XP_011515150.1:p.Arg2350Ter | |
| XM_011516849.2:c.6973C>T | XP_011515151.1:p.Arg2325Ter | |
| XM_011516850.2:c.6673C>T | XP_011515152.1:p.Arg2225Ter | |
| XM_011516851.2:c.3937C>T | XP_011515153.1:p.Arg1313Ter | |
| XM_011516852.2:c.3937C>T | XP_011515154.1:p.Arg1313Ter | |
| XM_011516853.2:c.7051C>T | XP_011515155.1:p.Arg2351Ter | |
| XM_011516854.2:c.2830C>T | XP_011515156.1:p.Arg944Ter | |
| XM_017013109.1:c.6856C>T | XP_016868598.1:p.Arg2286Ter | |
| XM_017013111.1:c.3937C>T | XP_016868600.1:p.Arg1313Ter | |
| XM_017013112.1:c.2608C>T | XP_016868601.1:p.Arg870Ter | |
| XM_024447074.1:c.5836C>T | XP_024302842.1:p.Arg1946Ter | |
| NM_017890.5:c.7051C>T MANE Plus Clinical | NP_060360.3:p.Arg2351Ter | |
| NM_152564.5:c.6976C>T MANE Select | NP_689777.3:p.Arg2326Ter |