Linked Data
ClinVar Variation Id:
310132
dbSNP Id:
rs775290860
ExAC:
12:6457283 C / T
gnomAD v2:
12-6457283-C-T
gnomAD v3:
12-6348117-C-T
gnomAD v4:
12-6348117-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6348117C>T , CM000674.2:g.6348117C>T | GRCh38 |
| NC_000012.11:g.6457283C>T , CM000674.1:g.6457283C>T | GRCh37 |
| NC_000012.10:g.6327544C>T | NCBI36 |
| NG_011945.1:g.34241G>A | |
| NG_011945.2:g.34241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1766G>A MANE Select | ENSP00000228916.2:p.Arg589Gln | |
| ENST00000228916.6:c.1766G>A | ENSP00000228916.2:p.Arg589Gln | |
| ENST00000338748.9:c.*837G>A | ENSP00000345028.5:n.*837G>A | |
| ENST00000360168.7:c.1943G>A | ENSP00000353292.3:p.Arg648Gln | |
| ENST00000396966.6:c.*172G>A | ENSP00000380166.2:n.*172G>A | |
| ENST00000539953.1:n.367G>A | ||
| ENST00000540037.5:c.866G>A | ENSP00000440876.1:p.Arg289Gln | |
| ENST00000543768.1:c.1835G>A | ENSP00000438739.1:p.Arg612Gln | |
| NM_001038.5:c.1766G>A | NP_001029.1:p.Arg589Gln | |
| NM_001159575.1:c.1835G>A | NP_001153047.1:p.Arg612Gln | |
| NM_001159576.1:c.1943G>A | NP_001153048.1:p.Arg648Gln | |
| NM_001038.6:c.1766G>A MANE Select | NP_001029.1:p.Arg589Gln | |
| NM_001159576.2:c.1943G>A | NP_001153048.1:p.Arg648Gln | |
| NM_001159575.2:c.1835G>A | NP_001153047.1:p.Arg612Gln |