Linked Data
ClinVar Variation Id:
408030
dbSNP Id:
rs773180520
gnomAD v2:
19-50912052-G-A
gnomAD v3:
19-50408795-G-A
gnomAD v4:
19-50408795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50408795G>A , CM000681.2:g.50408795G>A | GRCh38 |
| NC_000019.9:g.50912052G>A , CM000681.1:g.50912052G>A | GRCh37 |
| NC_000019.8:g.55603864G>A | NCBI36 |
| NG_033800.1:g.29473G>A , LRG_785:g.29473G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593887.2:c.1786G>A | ENSP00000472607.2:p.Val596Ile | |
| ENST00000600746.2:n.1977G>A | ||
| ENST00000644560.2:c.1864G>A | ENSP00000495618.2:p.Val622Ile | |
| ENST00000687454.1:c.1786G>A | ENSP00000510052.1:p.Val596Ile | |
| ENST00000440232.7:c.1786G>A MANE Select | ENSP00000406046.1:p.Val596Ile | |
| ENST00000595904.6:c.1864G>A | ENSP00000472445.1:p.Val622Ile | |
| ENST00000599857.7:c.1786G>A | ENSP00000473052.1:p.Val596Ile | |
| ENST00000601098.6:c.1786G>A | ENSP00000472600.2:p.Val596Ile | |
| ENST00000613923.6:c.1786G>A | ENSP00000481858.2:p.Val596Ile | |
| ENST00000643407.1:c.1786G>A | ENSP00000496078.1:p.Val596Ile | |
| ENST00000644560.1:c.735G>A | ||
| ENST00000440232.6:c.1786G>A | ENSP00000406046.1:p.Val596Ile | |
| ENST00000595904.5:c.1864G>A | ENSP00000472445.1:p.Val622Ile | |
| ENST00000596425.1:c.191G>A | ||
| ENST00000599857.5:c.1786G>A | ENSP00000473052.1:p.Val596Ile | |
| ENST00000600859.5:c.1786G>A | ENSP00000470726.1:p.Val596Ile | |
| ENST00000613923.4:c.1864G>A | ENSP00000481858.1:p.Val622Ile | |
| NM_001256849.1:c.1786G>A , LRG_785t1:c.1786G>A | NP_001243778.1:p.Val596Ile | |
| NM_001308632.1:c.1864G>A , LRG_785t2:c.1864G>A | NP_001295561.1:p.Val622Ile | |
| NM_002691.3:c.1786G>A | NP_002682.2:p.Val596Ile | |
| NR_046402.1:n.1855G>A | ||
| XM_005259008.3:c.1786G>A | XP_005259065.1:p.Val596Ile | |
| XM_011527038.1:c.1786G>A | XP_011525340.1:p.Val596Ile | |
| XM_011527039.1:c.1786G>A | XP_011525341.1:p.Val596Ile | |
| XR_935835.1:n.1888G>A | ||
| XM_005259008.4:c.1786G>A | XP_005259065.1:p.Val596Ile | |
| XM_017026881.1:c.1786G>A | XP_016882370.1:p.Val596Ile | |
| XM_017026882.2:c.1786G>A | XP_016882371.1:p.Val596Ile | |
| XR_935835.2:n.1887G>A | ||
| NM_002691.4:c.1786G>A MANE Select | NP_002682.2:p.Val596Ile | |
| NR_046402.2:n.1831G>A |