Linked Data
ClinVar Variation Id:
966606
dbSNP Id:
rs137853022
ExAC:
9:111662583 C / T
gnomAD v2:
9-111662583-C-T
gnomAD v3:
9-108900303-C-T
gnomAD v4:
9-108900303-C-T
COSMIC:
COSM3168876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108900303C>T , CM000671.2:g.108900303C>T | GRCh38 |
| NC_000009.11:g.111662583C>T , CM000671.1:g.111662583C>T | GRCh37 |
| NC_000009.10:g.110702404C>T | NCBI36 |
| NG_008788.1:g.39026G>A , LRG_251:g.39026G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.2087G>A MANE Select | ENSP00000363779.5:p.Arg696Gln | |
| ENST00000495759.6:c.*697G>A | ENSP00000433514.2:n.*697G>A | |
| ENST00000674535.1:c.2087G>A | ENSP00000502142.1:p.Arg696Gln | |
| ENST00000674704.1:n.3894G>A | ||
| ENST00000674836.1:n.2392G>A | ||
| ENST00000674890.1:c.2087G>A | ENSP00000501870.1:p.Arg696Gln | |
| ENST00000674938.1:c.1745G>A | ENSP00000502427.1:p.Arg582Gln | |
| ENST00000674948.1:c.1745G>A | ENSP00000501602.1:p.Arg582Gln | |
| ENST00000675052.1:c.2087G>A | ENSP00000502664.1:p.Arg696Gln | |
| ENST00000675078.1:c.2087G>A | ENSP00000501549.1:p.Arg696Gln | |
| ENST00000675215.1:c.*1311G>A | ENSP00000502558.1:n.*1311G>A | |
| ENST00000675233.1:n.3914G>A | ||
| ENST00000675321.1:c.2087G>A | ENSP00000502751.1:p.Arg696Gln | |
| ENST00000675325.1:n.3883G>A | ||
| ENST00000675335.1:c.2118G>A | ENSP00000502182.1:n.2118G>A | |
| ENST00000675400.1:n.3760G>A | ||
| ENST00000675406.1:c.2087G>A | ENSP00000501893.1:p.Arg696Gln | |
| ENST00000675458.1:c.2180G>A | ENSP00000501754.1:n.2180G>A | |
| ENST00000675507.1:n.3883G>A | ||
| ENST00000675535.1:c.2087G>A | ENSP00000501667.1:p.Arg696Gln | |
| ENST00000675566.1:n.3883G>A | ||
| ENST00000675602.1:n.5135G>A | ||
| ENST00000675647.1:n.2392G>A | ||
| ENST00000675711.1:c.2087G>A | ENSP00000502485.1:p.Arg696Gln | |
| ENST00000675727.1:c.2087G>A | ENSP00000501722.1:p.Arg696Gln | |
| ENST00000675748.1:n.3721G>A | ||
| ENST00000675765.1:c.2087G>A | ENSP00000502640.1:p.Arg696Gln | |
| ENST00000675825.1:c.2087G>A | ENSP00000502632.1:p.Arg696Gln | |
| ENST00000675877.1:n.2392G>A | ||
| ENST00000675893.1:c.*3156G>A | ENSP00000502001.1:n.*3156G>A | |
| ENST00000675943.1:n.5702G>A | ||
| ENST00000675979.1:c.*1330G>A | ENSP00000502208.1:n.*1330G>A | |
| ENST00000676044.1:c.2087G>A | ENSP00000502378.1:p.Arg696Gln | |
| ENST00000676086.1:n.3872G>A | ||
| ENST00000676121.1:n.3915G>A | ||
| ENST00000676237.1:c.1988G>A | ENSP00000501828.1:p.Arg663Gln | |
| ENST00000676416.1:c.1745G>A | ENSP00000501660.1:p.Arg582Gln | |
| ENST00000676424.1:n.3883G>A | ||
| ENST00000676429.1:n.6556G>A | ||
| ENST00000374647.9:c.2087G>A | ENSP00000363779.5:p.Arg696Gln | |
| ENST00000537196.1:c.1040G>A | ENSP00000439367.1:p.Arg347Gln | |
| NM_003640.3:c.2087G>A , LRG_251t1:c.2087G>A | NP_003631.2:p.Arg696Gln | |
| XM_005252285.2:c.1745G>A | XP_005252342.1:p.Arg582Gln | |
| XM_011519136.1:c.2087G>A | XP_011517438.1:p.Arg696Gln | |
| XM_011519137.1:c.1745G>A | XP_011517439.1:p.Arg582Gln | |
| XR_929859.1:n.2403G>A | ||
| NM_001318360.1:c.1745G>A | NP_001305289.1:p.Arg582Gln | |
| NM_001330749.1:c.1040G>A | NP_001317678.1:p.Arg347Gln | |
| NM_003640.4:c.2087G>A | NP_003631.2:p.Arg696Gln | |
| XM_011519136.2:c.2087G>A | XP_011517438.1:p.Arg696Gln | |
| XR_929859.3:n.2414G>A | ||
| NM_003640.5:c.2087G>A MANE Select | NP_003631.2:p.Arg696Gln | |
| NM_001318360.2:c.1745G>A | NP_001305289.1:p.Arg582Gln | |
| NM_001330749.2:c.1040G>A | NP_001317678.1:p.Arg347Gln |