Linked Data
ClinVar Variation Id:
1509182
ClinVar RCV Id:
RCV002017714
dbSNP Id:
rs771322037
gnomAD v2:
11-118968574-C-T
gnomAD v3:
11-119097864-C-T
gnomAD v4:
11-119097864-C-T
COSMIC:
COSM242517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097864C>T , CM000673.2:g.119097864C>T | GRCh38 |
| NC_000011.9:g.118968574C>T , CM000673.1:g.118968574C>T | GRCh37 |
| NC_000011.8:g.118473784C>T | NCBI36 |
| NG_008918.1:g.9212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.966G>A | ||
| ENST00000524658.2:n.947G>A | ||
| ENST00000530052.2:n.1650G>A | ||
| ENST00000682191.1:n.1110G>A | ||
| ENST00000682192.1:n.1110G>A | ||
| ENST00000682232.1:c.*613G>A | ENSP00000507302.1:n.*613G>A | |
| ENST00000682326.1:c.908G>A | ENSP00000508129.1:p.Arg303His | |
| ENST00000682404.1:n.2009G>A | ||
| ENST00000682517.1:n.2009G>A | ||
| ENST00000682652.1:n.1879G>A | ||
| ENST00000682665.1:n.1305G>A | ||
| ENST00000682691.1:n.1305G>A | ||
| ENST00000682791.1:c.821G>A | ENSP00000507312.1:p.Arg274His | |
| ENST00000682811.1:c.790G>A | ENSP00000508196.1:p.Ala264Thr | |
| ENST00000682883.1:n.1031+539G>A | ||
| ENST00000682946.1:c.729-313G>A | ENSP00000506856.1:n.729-313G>A | |
| ENST00000683143.1:c.*613G>A | ENSP00000507168.1:n.*613G>A | |
| ENST00000683373.1:n.1110G>A | ||
| ENST00000683558.1:n.1110G>A | ||
| ENST00000683567.1:n.1017G>A | ||
| ENST00000683955.1:n.1664G>A | ||
| ENST00000684142.1:c.*583G>A | ENSP00000508008.1:n.*583G>A | |
| ENST00000684252.1:n.1305G>A | ||
| ENST00000684255.1:c.*613G>A | ENSP00000507398.1:n.*613G>A | |
| ENST00000684315.1:n.1641G>A | ||
| ENST00000684345.1:c.*583G>A | ENSP00000507163.1:n.*583G>A | |
| ENST00000684499.1:c.*1013G>A | ENSP00000506800.1:n.*1013G>A | |
| ENST00000684682.1:c.*336G>A | ENSP00000507326.1:n.*336G>A | |
| ENST00000354202.9:c.908G>A MANE Select | ENSP00000346142.4:p.Arg303His | |
| ENST00000636404.1:c.232+539G>A | ||
| ENST00000638850.1:c.412G>A | ||
| ENST00000639704.1:c.815G>A | ENSP00000491336.1:p.Arg272His | |
| ENST00000640102.1:c.*561G>A | ENSP00000492027.1:n.*561G>A | |
| ENST00000640747.1:c.*583G>A | ENSP00000492730.1:n.*583G>A | |
| ENST00000354202.8:c.908G>A | ENSP00000346142.4:p.Arg303His | |
| ENST00000392834.7:c.*613G>A | ENSP00000376579.3:n.*613G>A | |
| ENST00000409993.6:c.908G>A | ENSP00000386597.2:p.Arg303His | |
| ENST00000414373.5:c.*474+539G>A | ENSP00000402019.1:n.*474+539G>A | |
| ENST00000442480.1:c.640G>A | ENSP00000406591.1:p.Ala214Thr | |
| ENST00000461999.1:n.772G>A | ||
| ENST00000481084.5:n.1537G>A | ||
| ENST00000524658.1:n.213G>A | ||
| ENST00000525456.5:n.732-313G>A | ||
| NM_001382.3:c.908G>A | NP_001373.2:p.Arg303His | |
| XM_005271422.2:c.908G>A | XP_005271479.1:p.Arg303His | |
| XM_011542648.1:c.587G>A | XP_011540950.1:p.Arg196His | |
| XR_947801.1:n.1164+539G>A | ||
| XM_005271422.3:c.908G>A | XP_005271479.1:p.Arg303His | |
| XM_011542648.2:c.587G>A | XP_011540950.1:p.Arg196His | |
| XM_017017293.2:c.587G>A | XP_016872782.1:p.Arg196His | |
| XM_017017294.2:c.729-313G>A | XP_016872783.1:n.729-313G>A | |
| XM_017017295.1:c.392G>A | XP_016872784.1:p.Arg131His | |
| XR_001747785.2:n.952-313G>A | ||
| XR_947801.2:n.951+539G>A | ||
| NM_001382.4:c.908G>A MANE Select | NP_001373.2:p.Arg303His |