Linked Data
ClinVar Variation Id:
408026
ClinVar RCV Id:
RCV003227753
dbSNP Id:
rs146530638
ExAC:
19:50912835 G / A
gnomAD v2:
19-50912835-G-A
gnomAD v3:
19-50409578-G-A
gnomAD v4:
19-50409578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50409578G>A , CM000681.2:g.50409578G>A | GRCh38 |
| NC_000019.9:g.50912835G>A , CM000681.1:g.50912835G>A | GRCh37 |
| NC_000019.8:g.55604647G>A | NCBI36 |
| NG_033800.1:g.30256G>A , LRG_785:g.30256G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593887.2:c.2066G>A | ENSP00000472607.2:p.Arg689Gln | |
| ENST00000600746.2:n.2257G>A | ||
| ENST00000644560.2:c.2144G>A | ENSP00000495618.2:p.Arg715Gln | |
| ENST00000687454.1:c.2066G>A | ENSP00000510052.1:p.Arg689Gln | |
| ENST00000440232.7:c.2066G>A MANE Select | ENSP00000406046.1:p.Arg689Gln | |
| ENST00000595904.6:c.2144G>A | ENSP00000472445.1:p.Arg715Gln | |
| ENST00000599857.7:c.2066G>A | ENSP00000473052.1:p.Arg689Gln | |
| ENST00000601098.6:c.2066G>A | ENSP00000472600.2:p.Arg689Gln | |
| ENST00000613923.6:c.2066G>A | ENSP00000481858.2:p.Arg689Gln | |
| ENST00000643407.1:c.2066G>A | ENSP00000496078.1:p.Arg689Gln | |
| ENST00000644560.1:c.1015G>A | ||
| ENST00000440232.6:c.2066G>A | ENSP00000406046.1:p.Arg689Gln | |
| ENST00000595904.5:c.2144G>A | ENSP00000472445.1:p.Arg715Gln | |
| ENST00000596425.1:c.471G>A | ||
| ENST00000599857.5:c.2066G>A | ENSP00000473052.1:p.Arg689Gln | |
| ENST00000600859.5:c.2066G>A | ENSP00000470726.1:p.Arg689Gln | |
| ENST00000613923.4:c.2144G>A | ENSP00000481858.1:p.Arg715Gln | |
| NM_001256849.1:c.2066G>A , LRG_785t1:c.2066G>A | NP_001243778.1:p.Arg689Gln | |
| NM_001308632.1:c.2144G>A , LRG_785t2:c.2144G>A | NP_001295561.1:p.Arg715Gln | |
| NM_002691.3:c.2066G>A | NP_002682.2:p.Arg689Gln | |
| NR_046402.1:n.2135G>A | ||
| XM_005259008.3:c.2066G>A | XP_005259065.1:p.Arg689Gln | |
| XM_011527038.1:c.2066G>A | XP_011525340.1:p.Arg689Gln | |
| XM_011527039.1:c.2066G>A | XP_011525341.1:p.Arg689Gln | |
| XR_935835.1:n.2168G>A | ||
| XM_005259008.4:c.2066G>A | XP_005259065.1:p.Arg689Gln | |
| XM_017026881.1:c.2066G>A | XP_016882370.1:p.Arg689Gln | |
| XM_017026882.2:c.2066G>A | XP_016882371.1:p.Arg689Gln | |
| XR_935835.2:n.2167G>A | ||
| NM_002691.4:c.2066G>A MANE Select | NP_002682.2:p.Arg689Gln | |
| NR_046402.2:n.2111G>A |