Linked Data
ClinVar Variation Id:
60675
ClinVar RCV Id:
RCV000054490
dbSNP Id:
rs397514731
gnomAD v4:
11-66565833-T-C
COSMIC:
COSM5970316
PubMed:
PMID:23297359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66565833T>C , CM000673.2:g.66565833T>C | GRCh38 |
| NC_000011.9:g.66333304T>C , CM000673.1:g.66333304T>C | GRCh37 |
| NC_000011.8:g.66089880T>C | NCBI36 |
| NG_032973.1:g.7744A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310325.10:c.962A>G MANE Select | ENSP00000310832.5:p.Gln321Arg | |
| ENST00000524994.6:c.959A>G | ENSP00000433082.2:p.Gln320Arg | |
| ENST00000525733.6:c.*156A>G | ENSP00000434936.2:n.*156A>G | |
| ENST00000526010.2:c.686A>G | ENSP00000435822.2:p.Gln229Arg | |
| ENST00000527141.6:n.861A>G | ||
| ENST00000530565.6:n.585A>G | ||
| ENST00000533168.2:n.1050A>G | ||
| ENST00000676860.1:n.913A>G | ||
| ENST00000676924.1:c.962A>G | ENSP00000503579.1:p.Gln321Arg | |
| ENST00000677005.1:c.962A>G | ENSP00000503238.1:p.Gln321Arg | |
| ENST00000677186.1:n.1082A>G | ||
| ENST00000677298.1:n.1368A>G | ||
| ENST00000677365.1:n.1021A>G | ||
| ENST00000677526.1:c.868-82A>G | ENSP00000504693.1:n.868-82A>G | |
| ENST00000677587.1:c.1004A>G | ENSP00000503791.1:p.Gln335Arg | |
| ENST00000677779.1:n.807A>G | ||
| ENST00000677896.1:c.953A>G | ENSP00000504605.1:p.Gln318Arg | |
| ENST00000677920.1:c.*214A>G | ENSP00000503614.1:n.*214A>G | |
| ENST00000678154.1:c.*624A>G | ENSP00000502935.1:n.*624A>G | |
| ENST00000678294.1:n.1078A>G | ||
| ENST00000678305.1:c.890A>G | ENSP00000504383.1:p.Gln297Arg | |
| ENST00000678383.1:n.971A>G | ||
| ENST00000678413.1:c.*156A>G | ENSP00000503232.1:n.*156A>G | |
| ENST00000678471.1:c.962A>G | ENSP00000502949.1:p.Gln321Arg | |
| ENST00000678614.1:n.142A>G | ||
| ENST00000678710.1:c.962A>G | ENSP00000504254.1:p.Gln321Arg | |
| ENST00000678872.1:c.962A>G | ENSP00000503425.1:p.Gln321Arg | |
| ENST00000678946.1:n.894A>G | ||
| ENST00000678953.1:c.*698A>G | ENSP00000504169.1:n.*698A>G | |
| ENST00000679011.1:c.868-82A>G | ENSP00000503980.1:n.868-82A>G | |
| ENST00000679024.1:c.962A>G | ENSP00000503506.1:p.Gln321Arg | |
| ENST00000679160.1:c.887A>G | ENSP00000503972.1:p.Gln296Arg | |
| ENST00000679225.1:n.902A>G | ||
| ENST00000679314.1:c.962A>G | ENSP00000503465.1:p.Gln321Arg | |
| ENST00000679347.1:c.962A>G | ENSP00000503676.1:p.Gln321Arg | |
| ENST00000310325.9:c.962A>G | ENSP00000310832.5:p.Gln321Arg | |
| ENST00000524994.5:c.504A>G | ||
| ENST00000525733.5:c.231A>G | ||
| ENST00000527141.5:n.483A>G | ||
| ENST00000529199.1:n.222A>G | ||
| ENST00000530565.5:n.208A>G | ||
| NM_003793.3:c.962A>G | NP_003784.2:p.Gln321Arg | |
| XM_011545328.1:c.782A>G | XP_011543630.1:p.Gln261Arg | |
| XM_011545328.2:c.782A>G | XP_011543630.1:p.Gln261Arg | |
| NM_003793.4:c.962A>G MANE Select | NP_003784.2:p.Gln321Arg |