Linked Data
ClinVar Variation Id:
161622
ClinVar RCV Id:
RCV000149158
dbSNP Id:
rs193920750
COSMIC:
COSM1178608
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39725383G>C , CM000679.2:g.39725383G>C | GRCh38 |
| NC_000017.10:g.37881636G>C , CM000679.1:g.37881636G>C | GRCh37 |
| NC_000017.9:g.35135162G>C | NCBI36 |
| NG_007503.1:g.42244G>C , LRG_724:g.42244G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2706G>C MANE Select | ENSP00000269571.4:p.Gln902His | |
| ENST00000269571.9:c.2706G>C | ENSP00000269571.4:p.Gln902His | |
| ENST00000406381.6:c.2616G>C | ENSP00000385185.2:p.Gln872His | |
| ENST00000445658.6:c.1878G>C | ENSP00000404047.2:p.Gln626His | |
| ENST00000541774.5:c.2661G>C | ENSP00000446466.1:p.Gln887His | |
| ENST00000578373.5:c.*2496G>C | ENSP00000463427.1:n.*2496G>C | |
| ENST00000583038.5:n.3962G>C | ||
| ENST00000584450.5:c.2706G>C | ENSP00000463714.1:p.Gln902His | |
| ENST00000584601.5:c.2616G>C | ENSP00000462438.1:p.Gln872His | |
| NM_001005862.2:c.2616G>C , LRG_724t1:c.2616G>C | NP_001005862.1:p.Gln872His | |
| NM_001289936.1:c.2661G>C , LRG_724t4:c.2661G>C | NP_001276865.1:p.Gln887His | |
| NM_001289937.1:c.2706G>C | NP_001276866.1:p.Gln902His | |
| NM_004448.3:c.2706G>C , LRG_724t2:c.2706G>C | NP_004439.2:p.Gln902His | |
| NR_110535.1:n.3030G>C | ||
| XM_024450641.1:c.2844G>C | XP_024306409.1:p.Gln948His | |
| XM_024450642.1:c.2799G>C | XP_024306410.1:p.Gln933His | |
| XM_024450643.1:c.2754G>C | XP_024306411.1:p.Gln918His | |
| NM_001005862.3:c.2616G>C | NP_001005862.1:p.Gln872His | |
| NM_001289936.2:c.2661G>C | NP_001276865.1:p.Gln887His | |
| NM_001289937.2:c.2706G>C | NP_001276866.1:p.Gln902His | |
| NM_001382782.1:c.2616G>C | NP_001369711.1:p.Gln872His | |
| NM_001382783.1:c.2616G>C | NP_001369712.1:p.Gln872His | |
| NM_001382784.1:c.2823G>C | NP_001369713.1:p.Gln941His | |
| NM_001382785.1:c.2808G>C | NP_001369714.1:p.Gln936His | |
| NM_001382786.1:c.2787G>C | NP_001369715.1:p.Gln929His | |
| NM_001382787.1:c.2781G>C | NP_001369716.1:p.Gln927His | |
| NM_001382788.1:c.2736G>C | NP_001369717.1:p.Gln912His | |
| NM_001382789.1:c.2727G>C | NP_001369718.1:p.Gln909His | |
| NM_001382790.1:c.2703G>C | NP_001369719.1:p.Gln901His | |
| NM_001382791.1:c.2697G>C | NP_001369720.1:p.Gln899His | |
| NM_001382792.1:c.2670G>C | NP_001369721.1:p.Gln890His | |
| NM_001382793.1:c.2664G>C | NP_001369722.1:p.Gln888His | |
| NM_001382794.1:c.2664G>C | NP_001369723.1:p.Gln888His | |
| NM_001382795.1:c.2658G>C | NP_001369724.1:p.Gln886His | |
| NM_001382796.1:c.2706G>C | NP_001369725.1:p.Gln902His | |
| NM_001382797.1:c.2607G>C | NP_001369726.1:p.Gln869His | |
| NM_001382798.1:c.2550G>C | NP_001369727.1:p.Gln850His | |
| NM_001382799.1:c.2526G>C | NP_001369728.1:p.Gln842His | |
| NM_001382800.1:c.2520G>C | NP_001369729.1:p.Gln840His | |
| NM_001382801.1:c.2502G>C | NP_001369730.1:p.Gln834His | |
| NM_001382802.1:c.2448G>C | NP_001369731.1:p.Gln816His | |
| NM_001382803.1:c.2664G>C | NP_001369732.1:p.Gln888His | |
| NM_001382804.1:c.1878G>C | NP_001369733.1:p.Gln626His | |
| NM_001382805.1:c.2208+1723G>C | NP_001369734.1:n.2208+1723G>C | |
| NM_001382806.1:c.1668G>C | NP_001369735.1:p.Gln556His | |
| NM_004448.4:c.2706G>C MANE Select | NP_004439.2:p.Gln902His | |
| NR_110535.2:n.2944G>C |