Linked Data
ClinVar Variation Id:
382535
dbSNP Id:
rs141701073
ExAC:
11:6636465 T / C
gnomAD v2:
11-6636465-T-C
gnomAD v3:
11-6615234-T-C
gnomAD v4:
11-6615234-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615234T>C , CM000673.2:g.6615234T>C | GRCh38 |
| NC_000011.9:g.6636465T>C , CM000673.1:g.6636465T>C | GRCh37 |
| NC_000011.8:g.6593041T>C | NCBI36 |
| NG_008653.1:g.9228A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1248A>G | ENSP00000507321.1:p.Ala416= | |
| ENST00000299427.12:c.1362A>G MANE Select | ENSP00000299427.6:p.Ala454= | |
| ENST00000524611.2:n.222A>G | ||
| ENST00000524924.2:n.482A>G | ||
| ENST00000533371.6:c.633A>G | ENSP00000437066.1:p.Ala211= | |
| ENST00000642892.1:c.633A>G | ENSP00000494165.1:p.Ala211= | |
| ENST00000643342.1:c.435A>G | ||
| ENST00000643439.1:c.*1102A>G | ENSP00000495849.1:n.*1102A>G | |
| ENST00000643479.1:n.1548A>G | ||
| ENST00000643516.1:c.871A>G | ||
| ENST00000644218.1:c.1173A>G | ENSP00000493574.1:p.Ala391= | |
| ENST00000644683.1:c.*815A>G | ENSP00000494085.1:n.*815A>G | |
| ENST00000644810.1:c.1083A>G | ENSP00000495895.1:p.Ala361= | |
| ENST00000644831.1:n.1538A>G | ||
| ENST00000644933.1:c.*228A>G | ENSP00000496133.1:n.*228A>G | |
| ENST00000645285.1:c.*228A>G | ENSP00000495058.1:n.*228A>G | |
| ENST00000645331.1:n.2567A>G | ||
| ENST00000645620.1:c.633A>G | ENSP00000493657.1:p.Ala211= | |
| ENST00000646691.1:n.1249A>G | ||
| ENST00000646777.1:n.1695A>G | ||
| ENST00000647016.1:n.1842A>G | ||
| ENST00000647152.1:c.633A>G | ENSP00000495893.1:p.Ala211= | |
| ENST00000647209.1:c.*1231A>G | ENSP00000495558.1:n.*1231A>G | |
| ENST00000647346.1:n.2382A>G | ||
| ENST00000299427.10:c.1362A>G | ENSP00000299427.6:p.Ala454= | |
| ENST00000524611.1:n.240A>G | ||
| ENST00000532191.1:n.415A>G | ||
| ENST00000533371.5:c.633A>G | ENSP00000437066.1:p.Ala211= | |
| ENST00000611494.4:c.1362A>G | ENSP00000484546.1:p.Ala454= | |
| NM_000391.3:c.1362A>G | NP_000382.3:p.Ala454= | |
| NM_000391.4:c.1362A>G MANE Select | NP_000382.3:p.Ala454= |