Linked Data
ClinVar Variation Id:
89086
dbSNP Id:
rs398122959
gnomAD v2:
11-6636430-A-C
gnomAD v3:
11-6615199-A-C
gnomAD v4:
11-6615199-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615199A>C , CM000673.2:g.6615199A>C | GRCh38 |
| NC_000011.9:g.6636430A>C , CM000673.1:g.6636430A>C | GRCh37 |
| NC_000011.8:g.6593006A>C | NCBI36 |
| NG_008653.1:g.9263T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.1283T>G | ENSP00000507321.1:p.Val428Gly | |
| ENST00000299427.12:c.1397T>G MANE Select | ENSP00000299427.6:p.Val466Gly | |
| ENST00000524611.2:n.257T>G | ||
| ENST00000524924.2:n.517T>G | ||
| ENST00000533371.6:c.668T>G | ENSP00000437066.1:p.Val223Gly | |
| ENST00000642892.1:c.668T>G | ENSP00000494165.1:p.Val223Gly | |
| ENST00000643342.1:c.470T>G | ||
| ENST00000643439.1:c.*1137T>G | ENSP00000495849.1:n.*1137T>G | |
| ENST00000643479.1:n.1583T>G | ||
| ENST00000643516.1:c.906T>G | ||
| ENST00000644218.1:c.1208T>G | ENSP00000493574.1:p.Val403Gly | |
| ENST00000644683.1:c.*850T>G | ENSP00000494085.1:n.*850T>G | |
| ENST00000644810.1:c.1118T>G | ENSP00000495895.1:p.Val373Gly | |
| ENST00000644831.1:n.1573T>G | ||
| ENST00000644933.1:c.*263T>G | ENSP00000496133.1:n.*263T>G | |
| ENST00000645285.1:c.*263T>G | ENSP00000495058.1:n.*263T>G | |
| ENST00000645331.1:n.2602T>G | ||
| ENST00000645620.1:c.668T>G | ENSP00000493657.1:p.Val223Gly | |
| ENST00000646691.1:n.1284T>G | ||
| ENST00000646777.1:n.1730T>G | ||
| ENST00000647016.1:n.1877T>G | ||
| ENST00000647152.1:c.668T>G | ENSP00000495893.1:p.Val223Gly | |
| ENST00000647209.1:c.*1266T>G | ENSP00000495558.1:n.*1266T>G | |
| ENST00000647346.1:n.2417T>G | ||
| ENST00000299427.10:c.1397T>G | ENSP00000299427.6:p.Val466Gly | |
| ENST00000524611.1:n.275T>G | ||
| ENST00000533371.5:c.668T>G | ENSP00000437066.1:p.Val223Gly | |
| ENST00000611494.4:c.1397T>G | ENSP00000484546.1:p.Val466Gly | |
| NM_000391.3:c.1397T>G | NP_000382.3:p.Val466Gly | |
| NM_000391.4:c.1397T>G MANE Select | NP_000382.3:p.Val466Gly |