Linked Data
ClinVar Variation Id:
134249
dbSNP Id:
rs587778312
ExAC:
16:89839685 G / A
gnomAD v2:
16-89839685-G-A
gnomAD v3:
16-89773277-G-A
gnomAD v4:
16-89773277-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89773277G>A , CM000678.2:g.89773277G>A | GRCh38 |
| NC_000016.9:g.89839685G>A , CM000678.1:g.89839685G>A | GRCh37 |
| NC_000016.8:g.88367186G>A | NCBI36 |
| NG_011706.1:g.48381C>T , LRG_495:g.48381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*198C>T | ENSP00000512522.1:n.*198C>T | |
| ENST00000564475.6:c.2008C>T | ENSP00000454977.2:p.Arg670Cys | |
| ENST00000567205.2:c.2008C>T | ENSP00000457027.2:p.Arg670Cys | |
| ENST00000567284.7:n.2051C>T | ||
| ENST00000567510.2:c.504C>T | ENSP00000455969.1:n.504C>T | |
| ENST00000568369.6:c.2008C>T | ENSP00000456829.1:p.Arg670Cys | |
| ENST00000696274.1:n.1969C>T | ||
| ENST00000696275.1:c.*1243C>T | ENSP00000512517.1:n.*1243C>T | |
| ENST00000696276.1:n.2051C>T | ||
| ENST00000696286.1:c.2008C>T | ENSP00000512523.1:p.Arg670Cys | |
| ENST00000696287.1:c.2008C>T | ENSP00000512524.1:p.Arg670Cys | |
| ENST00000696291.1:c.*1424C>T | ENSP00000512530.1:n.*1424C>T | |
| ENST00000389301.8:c.2008C>T MANE Select | ENSP00000373952.3:p.Arg670Cys | |
| ENST00000389301.7:c.2008C>T | ENSP00000373952.3:p.Arg670Cys | |
| ENST00000567284.6:n.232C>T | ||
| ENST00000568369.5:c.2008C>T | ENSP00000456829.1:p.Arg670Cys | |
| NM_000135.2:c.2008C>T , LRG_495t1:c.2008C>T | NP_000126.2:p.Arg670Cys | |
| NM_001286167.1:c.2008C>T | NP_001273096.1:p.Arg670Cys | |
| XM_005256294.3:c.2008C>T | XP_005256351.1:p.Arg670Cys | |
| XM_011522945.1:c.2008C>T | XP_011521247.1:p.Arg670Cys | |
| XM_011522946.1:c.985C>T | XP_011521248.1:p.Arg329Cys | |
| XM_011522947.1:c.985C>T | XP_011521249.1:p.Arg329Cys | |
| XM_011522948.1:c.2008C>T | XP_011521250.1:p.Arg670Cys | |
| XR_933244.1:n.2051C>T | ||
| XR_933245.1:n.2051C>T | ||
| XR_933246.1:n.2051C>T | ||
| XR_933247.1:n.2051C>T | ||
| NM_000135.3:c.2008C>T | NP_000126.2:p.Arg670Cys | |
| NM_001286167.2:c.2008C>T | NP_001273096.1:p.Arg670Cys | |
| XM_005256294.4:c.2008C>T | XP_005256351.1:p.Arg670Cys | |
| XM_011522945.2:c.2008C>T | XP_011521247.1:p.Arg670Cys | |
| XM_011522946.3:c.985C>T | XP_011521248.1:p.Arg329Cys | |
| XM_011522947.2:c.985C>T | XP_011521249.1:p.Arg329Cys | |
| XM_011522948.2:c.2008C>T | XP_011521250.1:p.Arg670Cys | |
| XM_017023044.2:c.2008C>T | XP_016878533.1:p.Arg670Cys | |
| XM_017023045.1:c.2008C>T | XP_016878534.1:p.Arg670Cys | |
| XM_024450189.1:c.985C>T | XP_024305957.1:p.Arg329Cys | |
| XR_001751866.1:n.2051C>T | ||
| XR_933244.2:n.2051C>T | ||
| XR_933245.2:n.2051C>T | ||
| XR_933247.2:n.2051C>T | ||
| NM_000135.4:c.2008C>T MANE Select | NP_000126.2:p.Arg670Cys | |
| NM_001286167.3:c.2008C>T | NP_001273096.1:p.Arg670Cys |