Linked Data
ClinVar Variation Id:
198725
dbSNP Id:
rs765380155
ExAC:
11:6637605 C / T
gnomAD v2:
11-6637605-C-T
gnomAD v3:
11-6616374-C-T
gnomAD v4:
11-6616374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616374C>T , CM000673.2:g.6616374C>T | GRCh38 |
| NC_000011.9:g.6637605C>T , CM000673.1:g.6637605C>T | GRCh37 |
| NC_000011.8:g.6594181C>T | NCBI36 |
| NG_008653.1:g.8088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.902G>A | ENSP00000507321.1:p.Arg301Gln | |
| ENST00000299427.12:c.1016G>A MANE Select | ENSP00000299427.6:p.Arg339Gln | |
| ENST00000436873.7:c.313-300G>A | ||
| ENST00000533371.6:c.287G>A | ENSP00000437066.1:p.Arg96Gln | |
| ENST00000642892.1:c.287G>A | ENSP00000494165.1:p.Arg96Gln | |
| ENST00000643342.1:c.106G>A | ||
| ENST00000643439.1:c.*756G>A | ENSP00000495849.1:n.*756G>A | |
| ENST00000643479.1:n.1202G>A | ||
| ENST00000643516.1:c.525G>A | ||
| ENST00000644218.1:c.886+287G>A | ENSP00000493574.1:n.886+287G>A | |
| ENST00000644683.1:c.*469G>A | ENSP00000494085.1:n.*469G>A | |
| ENST00000644810.1:c.737G>A | ENSP00000495895.1:p.Arg246Gln | |
| ENST00000644831.1:n.1192G>A | ||
| ENST00000644933.1:c.287G>A | ENSP00000496133.1:p.Arg96Gln | |
| ENST00000645285.1:c.157+287G>A | ENSP00000495058.1:n.157+287G>A | |
| ENST00000645331.1:n.1539G>A | ||
| ENST00000645620.1:c.287G>A | ENSP00000493657.1:p.Arg96Gln | |
| ENST00000646691.1:n.109G>A | ||
| ENST00000646777.1:n.1349G>A | ||
| ENST00000647016.1:n.1496G>A | ||
| ENST00000647152.1:c.287G>A | ENSP00000495893.1:p.Arg96Gln | |
| ENST00000647209.1:c.*885G>A | ENSP00000495558.1:n.*885G>A | |
| ENST00000647346.1:n.2036G>A | ||
| ENST00000299427.10:c.1016G>A | ENSP00000299427.6:p.Arg339Gln | |
| ENST00000533371.5:c.287G>A | ENSP00000437066.1:p.Arg96Gln | |
| ENST00000611494.4:c.1016G>A | ENSP00000484546.1:p.Arg339Gln | |
| NM_000391.3:c.1016G>A | NP_000382.3:p.Arg339Gln | |
| NM_000391.4:c.1016G>A MANE Select | NP_000382.3:p.Arg339Gln |