Linked Data
ClinVar Variation Id:
379604
dbSNP Id:
rs114943513
ExAC:
6:158549238 C / T
gnomAD v2:
6-158549238-C-T
gnomAD v3:
6-158128206-C-T
gnomAD v4:
6-158128206-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158128206C>T , CM000668.2:g.158128206C>T | GRCh38 |
| NC_000006.11:g.158549238C>T , CM000668.1:g.158549238C>T | GRCh37 |
| NC_000006.10:g.158469226C>T | NCBI36 |
| NG_032889.1:g.45075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.179G>A | ENSP00000391168.2:p.Arg60Gln | |
| ENST00000607071.6:c.*637G>A | ENSP00000475855.1:n.*637G>A | |
| ENST00000642244.1:c.827G>A | ENSP00000493554.1:p.Arg276Gln | |
| ENST00000642903.1:c.917G>A | ENSP00000493559.1:p.Arg306Gln | |
| ENST00000644972.1:c.917G>A | ENSP00000496451.1:p.Arg306Gln | |
| ENST00000645077.1:c.*686+2167G>A | ENSP00000496113.1:n.*686+2167G>A | |
| ENST00000645172.1:c.*619G>A | ENSP00000495367.1:n.*619G>A | |
| ENST00000646190.1:n.2248G>A | ||
| ENST00000646208.1:c.653G>A | ENSP00000493723.1:p.Arg218Gln | |
| ENST00000646410.1:c.788G>A | ENSP00000494205.1:p.Arg263Gln | |
| ENST00000646562.1:c.*751G>A | ENSP00000496087.1:n.*751G>A | |
| ENST00000647468.2:c.917G>A MANE Select | ENSP00000496731.1:p.Arg306Gln | |
| ENST00000648111.1:c.*561G>A | ENSP00000497275.1:n.*561G>A | |
| ENST00000367101.5:c.917G>A | ENSP00000356068.1:p.Arg306Gln | |
| ENST00000367104.7:c.917G>A | ENSP00000356071.3:p.Arg306Gln | |
| ENST00000606965.5:c.803G>A | ENSP00000475808.1:p.Arg268Gln | |
| ENST00000607071.5:c.*851G>A | ENSP00000475855.1:n.*851G>A | |
| ENST00000607742.5:c.*751G>A | ENSP00000475523.1:n.*751G>A | |
| NM_032861.3:c.917G>A | NP_116250.3:p.Arg306Gln | |
| NR_073096.1:n.945G>A | ||
| XM_006715586.1:c.707G>A | XP_006715649.1:p.Arg236Gln | |
| XM_011536196.1:c.896G>A | XP_011534498.1:p.Arg299Gln | |
| XM_011536197.1:c.803G>A | XP_011534499.1:p.Arg268Gln | |
| XM_011536198.1:c.707G>A | XP_011534500.1:p.Arg236Gln | |
| XR_942606.1:n.918G>A | ||
| XM_006715586.3:c.707G>A | XP_006715649.1:p.Arg236Gln | |
| XM_011536196.3:c.896G>A | XP_011534498.1:p.Arg299Gln | |
| XM_011536198.3:c.707G>A | XP_011534500.1:p.Arg236Gln | |
| XM_024446573.1:c.917G>A | XP_024302341.1:p.Arg306Gln | |
| XR_001743697.2:n.998G>A | ||
| XR_942606.2:n.1049G>A | ||
| NM_032861.4:c.917G>A MANE Select | NP_116250.3:p.Arg306Gln | |
| NR_073096.2:n.927G>A |